Search

Autoimmune disorders are common presenting manifestations of immunodeficiency syndromes. We present a case of a woman in her late teens, with a history of frequent sinopulmonary tract infections during her childhood, who presented to our hospital with anaemia, jaundice and fatigue. She also had significant physical growth retardation for her age and sex. With this case report, we intend to present the diagnostic and therapeutic challenges faced by the patient and our healthcare system and propose a few feasible solutions to tackle these challenges.

We present a case of a male neonate with refractory and persistent neonatal hypoglycaemia not responding to octreotide. On evaluation for hypoglycaemia, his cortisol was within the reference range while the serum insulin concentrations were high. Gallium-68 dotatate scan (GA-68 DOTA) showed diffuse pancreatic involvement. Genetic diagnosis of congenital hyperinsulinaemic hypoglycaemia due to

A woman in her early 30s presented herself with acute dyspnoea and elevated D-dimers 5 weeks after delivery of her second child. Echocardiographic findings showed signs of acute left ventricular failure, and an MRI confirmed a non-ischaemic dilated left heart failure compatible with peripartum cardiomyopathy. The antihormonal therapy with bromocriptine during 6 weeks and an intensive heart failure therapy led to an amelioration of the heart function within 3 years, but full recovery was not yet observed.

Homozygous familial hypercholesterolaemia (HoFH) is a disorder affecting low-density lipoprotein (LDL) receptor genes. Patients typically have a triad of elevated LDL-cholesterol (LDL-C), xanthomatosis and premature atherosclerotic cardiovascular disease. Our patient, a preteen boy, presented with signs of hypertensive encephalopathy. Physical examination showed arcus cornealis, planar xanthomas and tuberous xanthomas. After appropriate investigations, a direct aetiology of the hypertension could not be elucidated; however, our patient’s hypertension resolved with the reduction in serum lipid levels. β-hydroxy β-methylglutaryl coenzyme A reductase and cholesterol absorption inhibitors were administered as first-line treatment. A significant proportion of patients with HoFH continue to have elevated LDL-C levels, thereby requiring second-line agents, such as proprotein convertase subtilisin/kexin type inhibitors (evolocumab), microsomal triglyceride transfer protein inhibitors (lomitapide) and angiopoietin-like protein inhibitors (evinacumab). This case report aimed to raise awareness among paediatricians to consider HoFH as a possible aetiology in a child presenting with hypertension and suggestive physical findings.

The transition from paediatric care to adult care is often difficult, especially in children with chronic diseases like asthma. A significant number of children reach remission throughout puberty; consequently, they are not tracked down for subsequent follow-ups and are not included in transition programmes to adult care. This case report focuses on a young adult with asthma that began in childhood and went into remission during adolescence, only to experience a recurrence when the patient was a young adult. Due to failing to complete the transition process into adult care services, she had poor adherence to therapy and asthma control.Adherence and asthma control significantly improved after a multidisciplinary approach in an adult care setting. In conclusion, appropriate transition and a multidisciplinary approach are critical for the effective management of asthma in young adults.

Iron deficiency and the more severe sequela, iron deficiency anemia, are public health problems associated with morbidity and mortality, particularly among pregnant women and younger children. The 1998 Centers for Disease Control and Prevention recommendations for prevention and control of iron deficiency in the United States is old and does not reflect recent evidence but is a foundational reference for many federal, clinical, and program guidelines.Surveillance data for iron deficiency are sparse at all levels, with critical gaps for pregnant women and younger children. Anemia, iron deficiency, and iron deficiency anemia are often conflated but should not be. Clinical guidelines for anemia, iron deficiency, and iron deficiency anemia give inconsistent recommendations, causing nonsystematic assessment of iron deficiency. Screening for iron deficiency typically relies on identifying anemia, despite anemia’s low sensitivity for iron deficiency. In the National Health and Nutrition Examination Survey, more than 70% of iron deficiency is missed among pregnant women and children by relying on hemoglobin for iron deficiency screening.To improve assessment and diagnosis and strengthen surveillance, better and more complete data and updated foundational guidance on iron deficiency and anemia are needed that consider new evidence for measuring and interpreting laboratory results. (Am J Public Health. 2022;112(S8):S826–S835. https://doi.org/10.2105/AJPH.2022.306998 )

Lead exposure that occurs from contamination inadvertently brought home from a workplace is known as take-home exposure. Take-home exposures are a public health hazard that adversely affects health equity for families and communities. This article describes coordinated action by agencies in Minnesota to curb lead exposure among children of workers at a facility that produces fishing sinkers and battery terminals. (Am J Public Health. 2022;112(S7):S655–S657. https://doi.org/10.2105/AJPH.2022.306982 )

Objectives. To evaluate lead levels in tap water at licensed North Carolina child care facilities. Methods. Between July 2020 and October 2021, we enrolled 4005 facilities in a grant-funded, participatory science testing program. We identified risk factors associated with elevated first-draw lead levels using multiple logistic regression analysis. Results. By sample (n = 22 943), 3% of tap water sources exceeded the 10 parts per billion (ppb) North Carolina hazard level, whereas 25% of tap water sources exceeded 1 ppb, the American Academy of Pediatrics’ reference level. By facility, at least 1 tap water source exceeded 1 ppb and 10 ppb at 56% and 12% of facilities, respectively. Well water reliance was the largest risk factor, followed by participation in Head Start programs and building age. We observed large variability between tap water sources within the same facility. Conclusions. Tap water in child care facilities is a potential lead exposure source for children. Given variability among tap water sources, it is imperative to test every source used for drinking and cooking so appropriate action can be taken to protect children’s health. (Am J Public Health. 2022;112(S7):S695–S705. https://doi.org/10.2105/AJPH.2022.307003 )

Recurrent episodes of vomiting and diarrhoea in a child can present as a diagnostic dilemma and be easily misdiagnosed as recurrent viral gastroenteritis episodes. Primary adrenal insufficiency can present with recurrent episodes of vomiting and diarrhoea with the presence of metabolic acidosis and can be life-threatening if left undiagnosed and untreated. A high index of suspicion should be kept for diagnosing primary adrenal insufficiency in a child presenting with recurrent episodes of vomiting and diarrhoea with laboratory evidence of metabolic acidosis and hypoglycaemia. Primary adrenal insufficiency, in a male child specifically, should raise alarm for X-linked adrenoleukodystrophy (X-ALD). Very-long-chain fatty acids and confirmatory genetic testing for an ABCD1 gene mutation can help confirm the diagnosis. Addison’s disease often presents prior to the onset of the cerebral form of X-ALD. Early diagnosis of X-ALD allows for MRI screening for the development of cerebral disease in its early stages when treatment with stem cell transplant can halt the disease and be lifesaving.

Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation. Signs and symptoms ranging from liver injury in children to cardiomyopathy and skeletal myopathy in adults, manifest during periods of stress and fasting. Though acute liver failure is infrequently described, young children presenting as acute liver failure should be screened for fatty acid oxidation defects including PCD by testing plasma for amino acids and further confirmed by genetic sequencing. Early identification and treatment using L-carnitine is lifesaving. Our patient presented as acute liver failure and diagnosis of PCD was confirmed by metabolic screening and genetic sequencing. He responded to the treatment.

Airway foreign bodies are typically removed orally using a rigid bronchoscope. We present a rare case of a foreign body at the tracheal bifurcation that required removal via tracheostomy. A child turned pale while eating nuts and was suspected to have choked on a foreign body. CT revealed a foreign body at the tracheal bifurcation. As his respiratory condition was unstable, tracheal intubation and removal were attempted using a rigid bronchoscope. Tracheal obstruction during oral removal resulted in respiratory failure and bradycardia. Following emergency tracheostomy, the foreign body was removed via the tracheal stoma after his respiratory condition stabilised. The patient was discharged 21 days later without neurological sequelae. To avoid hypoxaemia during airway foreign body removal, as in this case, assessing the size of the upper airway and foreign body is necessary. Tracheostomy and foreign body removal through the tracheal opening should be considered proactively.

We report an unplanned pregnancy in an HIV-positive woman in her 20s who was undergoing treatment for 6 months with alectinib (Alecensa) for stage IV non-small-cell lung carcinoma. Anaplastic lymphoma kinase (ALK)-tyrosine kinase inhibitor alectinib, a molecule that inhibits proteins involved in tumour cell growth, is the recommended first-line treatment option in case of ALK mutation. Although the patient was informed of the need for definitive contraception, she became pregnant during the treatment with alectinib. A complete tumour response was observed at the time the pregnancy was discovered. Treatment discontinuation was proposed as the patient wanted to keep the pregnancy. Alectinib was temporarily stopped throughout the remaining pregnancy period inline with the patient’s wishes. The pregnancy was uncomplicated. She delivered a healthy female baby vaginally, with treatment being resumed after delivery. After 34 follow-up months, the patient remained in oncological remission and the child’s physical development is normal.

Acute encephalitis is a syndromic diagnosis. In the last two decades, a unique clinico-radiological entity, named acute encephalopathy with biphasic seizures and late restricted diffusion (AESD), has been reported in children from Asia. It is characterised by an acute febrile illness with seizures and encephalopathy, with some initial improvement followed by a second flurry of seizures and deep encephalopathy, 3–4 days later. MRI may show a pattern of ‘bright tree appearance’. An aetiological agent may not always be identified but an infectious trigger is proposed. Immunomodulatory therapy has been tried with variable results. The prognosis is variable, and children are usually left with neurological sequelae including epilepsy and cognitive impairment. We describe a female infant who presented with the typical clinico-radiological syndrome of AESD and human bocavirus was identified in the stool. She received steroids and antiepileptic drugs. She has persistent cognitive impairment at follow-up but remained seizure free.

Traumatic pseudocysts of the lung are a rare complication following blunt trauma to the chest. Differentiating them from other cystic lesions of the lung is important. Traumatic pseudocysts usually occur in children and young adults who present with haemoptysis and persistent pain. History of trauma and radiological evaluation with a chest radiograph and a CT scan help in making the diagnosis. Follow-up chest radiographs showing resolution of the pseudocyst can confirm thediagnostic confirmation. This is a report of one such patient, a young man who improved after conservative treatment, with spontaneous radiological resolution of the pseudocyst.

Factitious disorder imposed on another, or medical child abuse, has been rarely reported to have primary ocular presentations. We report an unusual and difficult diagnosis of factitious disorder imposed by a mother on her infant resulting in bilateral blindness. An infant was referred with a history of recurrent periorbital cellulitis and sanguineous discharge associated with seizure-like episodes. Symptoms have been going on for more than 14 months, and child had been treated by different physicians from different specialties without a clear ophthalmic diagnosis. The right eye was previously enucleated at an outside hospital for secondary complications of similar symptoms. He was admitted for exhaustive diagnostic tests and multiple surgical treatments, and his hospital stay was complicated with multiple corneal perforations and apnoeic episodes despite optimal treatment. After suspicion of factitious disease, continuous electroencephalography and video monitoring revealed evidence of the mother inflicting physical harm to her child.

Vitamin C deficiency, historically known as scurvy, was associated with sailors in the Victorian times, however, a global review in 2020 suggests it still exists in certain at-risk groups.A case is presented of a young non-verbal child with learning difficulties and on a restricted diet, in which the primary symptom was gingival inflammation. It posed a diagnostic dilemma due to the non-specific symptoms, and a delay in the diagnosis, until vitamin C deficiency was confirmed.Gingival inflammation is one of the common findings in vitamin C deficiency and dental professionals may be the first point of contact. The importance of dietary evaluation, identifying and looking for other signs and liaising with the medical colleagues are discussed.This case highlights the role of the dentist in identifying latent cases of vitamin C deficiency and to consider this as a differential diagnosis especially in certain at-risk groups.

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a rare manifestation of Waardenburg-Shah syndrome associated with mutations in theSOX10gene. The phenotypic expression is variable, thus presenting a diagnostic challenge. Clinical manifestations of PCWH may mimic other neurocutaneous syndromes. A thorough history, careful physical examination, appropriate imaging studies and an index of suspicion are needed to diagnose this condition. We describe an adolescent girl with skin hypopigmentation and blue irides associated with sensorineural hearing loss, Hirschsprung disease, as well as seizures with neurological signs, and discuss the challenges in diagnosing PCWH.

We report a case of a preschool age girl, previously healthy, referred to our hospital on ventilatory support with a history of vomiting, headache, and rapid neurological worsening within 24 hours in the form of seizures, encephalopathy and loss of consciousness. On presentation, she was deeply comatose with dilated non-reactive pupils, absent brainstem reflexes and flaccid quadriplegia. Diagnosis of acute haemorrhagic leukoencephalitis was considered based on laboratory and neuroimaging findings. MRI of the brain showed fluffy white matter hyperintensities and microhaemorrhages in bilateral cerebral hemispheres and thalami. Aggressive treatment with methylprednisolone, plasmapheresis and intravenous immunoglobulin showed dramatic improvement with no neurological sequelae. Our case is unique in a way that despite the hyperacute onset and rapid deterioration, with a fulminant course in the intensive care unit, the child recovered dramatically with aggressive management.

A previously healthy boy of preschool age was brought to the emergency department by ambulance with respiratory distress following the accidental inhalation of food contact dust (cake decorating powder). Prehospital oxygen saturations were 80% in room air. Initial treatment was with oxygen, nebulised salbutamol, oral dexamethasone and intravenous amoxicillin/clavulanic acid. Treatment was escalated to nasal high flow oxygen therapy and high dependency care within 8 hours. Lung fields on his initial chest X-ray were clear but the following day showed perihilar infiltrates extending into the lower zones in keeping with inflammation. He was treated with intravenous methylprednisolone, followed by a weaning dose of oral prednisolone over 14 days.He required oxygen therapy for 9 days and remained in hospital for 11 days. Outpatient follow-up, 24 days after the inhalation took place was reassuring with the child showing no signs of abnormal respiratory symptoms.

Multisystem inflammatory syndrome in children (MIS-C) is a newly described syndrome related to the COVID-19, resembling other known aetiologies, including Kawasaki disease. Cardiovascular involvement is common; left ventricle dysfunction and coronary artery aneurysm (CAA) are also observed. Many treatment guidelines recommend using intravenous immunoglobulin (IVIG) alone or with glucocorticoids as the first-line therapy. Biological agents, such as anakinra, are recommended for refractory cases, but the evidence is still accumulating. Moreover, the use of other treatment agents can be beneficial, especially when anakinra is unavailable. Here, we report the case of a 9-year-old girl who presented with MIS-C with CAAs. She received cyclosporine because two rounds of IVIG treatment were ineffective and the use of anakinra is not approved in Japan. Her cytokine profile showed that cyclosporine prevented exacerbation. The case highlights that cyclosporine therapy can be an option for the treatment of refractory MIS-C with CAA.

IgA vasculitis is a rare systemic vasculitis in adults, frequently more severe than in paediatric age. It manifests with cutaneous, articular, gastrointestinal and renal involvement.We present a case of a man in his 40s diagnosed with IgA vasculitis with cutaneous, joint, gastrointestinal and renal disease. Significant proteinuria and renal biopsy findings demonstrating crescentic glomerulonephritis led to the onset of early immunosuppression with corticoid and cyclophosphamide. This case report reflects a case of more severe renal impairment due to IgA vasculitis with good outcome with the chosen therapy. The findings in the renal biopsy after treatment supported the good response to the chosen immunosuppression.

Traumatic experiences can have significant health effects, particularly when they are experienced during childhood. Structural determinants of health including environmental disasters and limited access to mental health services and affordable housing can contribute additional stress for parents with a personal history of childhood adversity. These factors can directly affect their children, contributing to intergenerational trauma. Pregnant people and families with young children are often referred to public health nursing maternal and child home visiting (HV) programs when there are concerns about historical or evolving childhood trauma. The strict eligibility and participation requirements of existing evidence-based maternal and child HV programs can exclude families that have experienced or are experiencing childhood trauma and its effects and can limit innovation by public health nurses, a hallmark of the field. Therefore, we advocate and describe the implementation of the Trauma Informed Approach in Public Health Nursing (TIA PHN) model, which incorporates a trauma-informed approach into a traditional maternal and child HV program in 3 California counties. TIA PHN, which began enrollment in March 2021, involves public health nurses and community health workers and integrates program evaluations in pursuit of evidence-based status. (Am J Public Health. 2022;112(S3):S298–S305. https://doi.org/10.2105/AJPH.2022.306737 )

A young adult man in 20s presented with bow leg deformity of both the knees, since childhood and bilateral knee pain for the last 4 years. Plain radiographs of both the knees confirmed bilateral genu varum deformity, more on the right side (16.2°) as compared with left (12.3°). He was managed surgically by a single-stage bilateral medial opening wedge high tibial osteotomy, using a synthetic bone substitute of a tri calcium phosphate. After the healing of osteotomies at 3 months, the patient was pain free and walked comfortably with normal lower limb alignment.

Objective: To demonstrate sexual dimorphism in serum leptin levels not only during puberty, but also in childhood in Japan. Design: Cross-sectional study. Setting: Hamamatsu-Hokuen study in Japan. Subjects: Body weight and height were measured in normal-weight Japanese children and adolescents (143 boys, 178 girls), and 161 boys and 129 girls whose percentage of overweight for the standard (%Wt) was more than+25%. Serum leptin levels were compared with %Wt. Subjects were divided into group 1 (6–10 y of age) and group 2 (11–15 y of age) according to their age. Results: In overweight subjects, leptin was more highly correlated with %Wt in boys of group 2 (r=0.67, P

Neuroblastoma (NB) is the most common extracranial solid tumour in children after lymphoblastic leukaemias, brain tumours and lymphomas.We report a case of an NB in a previously healthy toddler. Though she had no abdominal complaints, on physical examination, she had a palpable mass identified over the right upper portion of the abdomen. Imaging studies demonstrated a heterogeneous tumour with an irregular capsule and visible calcifications.After initial diagnosis, the patient underwent chemotherapy and was subjected to a radical resection of the tumour 4 months later. One-year follow-up of the patient showed no recurrence.In children, oncological diseases are often asymptomatic or have non-specific symptoms, and in remote locations where specialised/paediatric services may not be available, the importance of medical training in paediatrics is highlighted, with emphasis on performing a complete clinical examination, namely abdominal palpation. The role of timely referral will be evident in such a situation.

This study reports an exceptional case of a 14-year-old girl with sickle cell disease that was diagnosed with agenesis of the vermiform appendix and ileal duplication. Both consist of extremely rare gastrointestinal malformations whose association has never been described. The preadolescent girl presented with abdominal pain and vomiting, and the ultrasound was suggestive of acute appendicitis. Surgical findings were agenesis of the vermiform appendix and a T-shaped ileal malformation with inflammatory changes. The patient underwent resection and ileal end-to-end anastomosis. Histopathological evaluation identified an ileal duplication, with small bowel and colonic mucosa, no communication to the adjacent ileum and ischaemic changes. At 8-month follow-up, the patient was asymptomatic.

Renal parapelvic cysts (RPC) have an incidence of approximately 1%–3% in the general population. However, they rarely present in children with only two cases reported in literature. RPC are often misdiagnosed as it is difficult to distinguish them from hydronephrosis on preoperative imaging. We report a case of an infant with a giant RPC with associated pelvi-ureteric junction obstruction, who was managed successfully with laparoscopic complete excision of RPC and dismembered pyeloplasty. In our report, we discuss the challenges faced in the diagnosis and surgical management of this unusual case.

Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy, GLA mutation and low alpha-galactosidase A levels. He has an unusual genotype, hemizygous for the c.1000–11T>A intronic variant and positive for the pseudodeficiency allele D313Y. Due to the possibility of very early and accelerated disease progression, Fabry disease should be considered as a possible diagnosis in unexplained renal failure in males from a younger age.

Osteosarcoma is the most common paediatric and adolescent primary bone malignancy and is highly chemosensitive. Gastrointestinal metastases from osteosarcomas are rare. Bowel perforation secondary to chemotherapy is a potential serious complication reported in ovarian, colorectal and haematological malignancies. We report the first documented case of chemotherapy-mediated bowel perforation in an osteosarcoma patient with gastrointestinal metastases. A man in his 20s, with a history of resected osteosarcoma in remission, presented with abdominal pain. A computed tomography (CT) scan demonstrated a large calcified intrabdominal mass (15×13×9 cm) consistent with new peritoneal disease. After one cycle of palliative ifosfamide and etoposide chemotherapy, he developed a large bowel perforation and neutropenic sepsis consequently requiring resection of the perforated mass. Chemotherapy-induced bowel perforation is a rare but serious complication that should be considered in patients with osteosarcoma, and other chemosensitive malignancies, with intra-abdominal metastases. Recommencement of systemic therapies after bowel complications must be assessed cautiously on a case-by-case basis.

A male junior high school student presented with failure to gain weight and acceleration of growth for 2 years. Free triiodothyronine and free thyroxine levels were elevated, and the thyroid-stimulating hormone (TSH) level was suppressed. TSH receptor antibody (TRAb) and thyroid-stimulating antibody were negative. On I-123 thyroid scintigraphy, iodine uptake was most pronounced in the upper pole of the right lobe. The patient was initially diagnosed with asymmetrical TRAb-negative Graves’ disease (GD). His thyroid hormone level normalised with potassium iodide (KI) alone, and he became TRAb-positive 4 months after the initiation of KI therapy. This case demonstrates a rare presentation of GD that was initially TRAb-negative, which had asymmetrical iodine uptake on a thyroid scan and was confirmed to be TRAb positivity during the follow-up. KI monotherapy could be one of the effective treatment options for GD that is initially TRAb-negative.

We report a case of a young girl of South Asian descent presented with faltering growth, hepatomegaly, hypertriglyceridaemia and raised transaminases. Subsequent ultrasound scans identified fatty infiltration in her liver, and a liver biopsy showed fibrosis and steatosis. The patient’s serum triglycerides normalised without intervention by the age of 28 months. At age 6, whole-exome sequencing of the patient’s genome identified novel homozygous variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene,GPD1c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency.

A young girl was referred to our Institution for the appearance of a painless soft swelling in the right parietal region of the scalp. In the same site, the patient had a parietal bone fracture 1 year ago. In the suspicion of a growing skull fracture, the patient underwent radiological investigations. Ultrasound showed a soft, poorly vascularised swelling with parenchymatous content. The skull X-ray showed an apparent healing of the previous fracture. CT scan and MRI confirmed the correct healing of the fracture and described the presence of a lipomatous mass. The mass was surgically removed and histology confirmed the diagnosis of encapsulated lipoma. The postoperative period was uneventful, with no evidence of infections or recurrence in the 6-month follow-up.

Radicular cysts are most common odontogenic cysts seen in the orofacial region, but not commonly detected in paediatric cases. This case report describes the accidental detection of radicular cyst and its surgical management in an 8-year-old boy in lower left back region of the jaw. The article also gives an insight about radicular cyst from its aetiology to the various other treatment modalities.

Superior mesenteric artery syndrome (SMAS), also known as Wilkie’s syndrome, is a rare cause of upper gastrointestinal tract obstruction. We report a case of a 10-year-old girl with persistent abdominal pain for over 3 months, who on extensive investigations was diagnosed with SMAS. She underwent a surgical procedure to bypass the obstructed portion of the intestine for relief of her symptoms.

We report the case of a 3-year-old girl referred to our hospital dentistry service, from a public health centre, due to a 4-week-old swelling in the area of the hard palate, causing displacement of the deciduous tooth and the appearance of an interincisal diastema. The clinical characteristics suggested the possibility of a reactive fibroma and we decided to intervene surgically by means of an excisional biopsy. Histology confirmed the presumptive diagnosis. Prompt referral and early surgical care spontaneously favoured both repositioning of the displaced primary tooth and closure of the diastema. This is an infrequent lesion in paediatric patients.

A man in his early 30s, presented with multiple soft tissue swellings over the buttocks, around the knees, ankles and dorsum of both the hands since childhood. His father and paternal uncle had similar lesions, and his father had coronary artery disease. One of his sisters had a history of sudden death due to an unknown cause at 14 years. The patient and his parents had very high serum levels of total cholesterol and low-density lipoprotein. Based on the above findings, a clinical diagnosis of familial hyperlipidaemia type II was made. Larger lesions were excised in stages, and histopathological evaluation revealed the lesions to be eruptive xanthoma. A cardiac assessment revealed no significant abnormality. Lipid-lowering agents and low-dose aspirin were started, and the patient was advised for regular cardiology and endocrine evaluation. This case emphasises its rare presentation and the importance of early diagnosis and management to prevent any untoward future incidence.

Despite the advancements in the surgical management of glaucoma, childhood glaucoma remains a challenging surgical disease worldwide. An early adolescent boy with primary congenital glaucoma, status after glaucoma drainage device (GDD) implantation, on maximum medical therapy, was presented with a swelling in the superotemporal orbital region. The patient had undergone an uneventful GDD implantation 2 years prior to presentation. A similar swelling, which was diagnosed to be a Tenon’s cyst, had been excised on three earlier occasions. Given that the repeat capsular excision would also have the same likelihood of failure, and poor intraocular pressure control, a non-valved, cost-effective Aurolab aqueous drainage implant (AADI, Aurolab, Madurai, India) implantation was done inferonasally. In this patient, AADI proved to be a safe and effective alternative for the known GDDs.

An 11-year-old girl presented with pain in the sinus tarsi and a foot deformity after spraining her left foot. She had flat foot due to spasticity of the peroneal tendon, which was difficult to correct manually. An imaging study revealed an accessory anterolateral talar facet (AALTF) and bone marrow oedema at the lateral aspect of the posterior talocalcaneal joint. We diagnosed peroneal spastic flat foot with possible involvement of sinus tarsi syndrome and AALTF. When conservative therapy failed, we applied a cast with the foot in full plantar flexion and an inverted position. After 4 weeks, the patient had a normal range of motion in the foot, the pain had resolved completely and the peroneal spasticity had disappeared. Orthopaedic treatment with a cast may be worth attempting before surgery in such cases.

Haemophagocytic lymphohistiocytosis (HLH) is one of the rare haematological syndromes more commonly reported in infants/children than adults. This disease is known for its aggressive dysregulated immune response affecting the host rapidly, causing multiorgan dysfunction and thus carries a high mortality. The disease still remains cryptic in this current decade despite all the developments in the ever-evolving field of haematology. Due to its rare occurrence and being more frequent in infants and the paediatric population, the literature lacks enough data to standardise therapies. Such events in adults and the elderly are invariably related to an underlying insult such as infections, other autoimmune or rheumatological diseases or drugs. We describe an interesting case of a middle-aged Caucasian woman who presented with fever, pancytopenia and hepatitis, who was eventually diagnosed with HLH just in time to receive the life-saving specific treatment as per available guidelines.

This case discusses a 10-year-old boy who presented in significant respiratory distress with cardiac tamponade with associated gross ascites and hepatomegaly, requiring urgent transfer for pericardiocentesis. On further investigation, he was found to have multiple pulmonary emboli and evidence of panserositis. An underlying rheumatological cause was suspected in the absence of any evidence of infection or malignancy, and blood tests were positive for anti-double stranded DNA, anticardiolipin and antiglycoprotein antibodies as well as HLA B51. In his medical history, he has previously had mouth ulcers, chronic anaemia of undetermined cause and erythema multiforme. These symptoms, along with clinical presentation, mean a diagnosis of Behcet’s disease and associated antiphospholipid syndrome was felt to be most likely. Anticoagulation therapy was commenced for treatment of the emboli, and colchicine was started for management of Behcet’s disease. The patient was discharged clinically well from the hospital and continues under specialist rheumatological and haematological follow-up.

Gastrointestinal stromal tumours (GISTs) are very rare gastrointestinal (GI) mesenchymal tumours affecting only 0.02 children/million/year below the age of 14 years. We reported a 9-year-old girl presented to emergency department with pallor and haemoglobin of 50 g/L. Extensive workup for anaemia suggested iron-deficiency anaemia secondary to GI loss. Ultimately after blood transfusion of packed cells, she was discharged with a haemoglobin of 92 g/L with iron supplementation. Upper endoscopy showed incidental antral nodularity with biopsy proven helicobacter gastritis and an isolate 3–4 cm suspicious mass in the lesser curvature. Abdomen imaging confirmed the gastric mass in addition to two lesions, one retroperitoneal and one paraspinal. She undergone open laparotomy with complete surgical resection of the gastric and retroperitoneal masses with histological confirmation of GIST and paraganglioma. This case emphasises the importance of proper examination of the stomach at endoscopy and to illustrate that although anaemia is common in paediatric age group it may be reflect serious medical condition even in normal looking child.