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Objective: This study aimed to determine the prevalence and characteristics of primary stabbing headache in children and adolescents that presented because of headache. Materials and Methods: The medical files of 772 children and adolescents who presented with headache to the Pediatric Neurology Outpatient Clinic at Başkent University between 2012 and 2020 were retrospectively reviewed. In total, 77 patients (9.97%) with primary stabbing headache and those thought to have primary stabbing headache were included in the study. Patient data, including demographic features, headache characteristics, family history of primary headache, electroencephalographic (EEG) findings, and cranial magnetic resonane imaging (MRI) findings, were noted. Results: Age at presentation was

We aim to explore the importance of early differential diagnosis of an organic etiology such as intestinal malrotation and psychiatric disorder. We present a child with an intestinal malrotation, who had no symptoms until she was 4 year old. The child presented with sudden cessation of oral food intake and constipation. The diagnosis was missed at another center, as there were many accompanying psychiatric symptoms. The child improved after surgery, and the severity of the psychiatric symptoms decreased. This case emphasizes that an organic disorder can be confused with a mental disorder. Many patients with intestinal malrotation present with abdominal discomfort since childhood, while others present with relatively sudden onset of symptoms. The clinician should consider all symptoms to avoid missing that important and treatable condition.

Objective: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and the therapies of patients diagnosed with pseudotumor cerebri, redefining the patients according to the diagnostic criteria revised by Friedman et al. (2013), and comparing them with the literature. Material and Methods: 40 patients diagnosed with pseudotumor cerebri at the Pediatric Neurology Clinic were reevaluated in terms of clinical findings and therapies. The diagnoses were compared according to the modified Dandy and 2013 Friedman criteria. Results: The 40 patients who had been diagnosed as “definite pseudotumor cerebri” using the modified Dandy criteria were reclassified with the 2013 diagnostic criteria and there were no changes in the diagnoses of 37 patients while three patients were shifted to the “probable pseudotumor cerebri” group. The mean age of the patients was 11.15 ± 3.32 years. Forty percent of the patients were prepubertal and 60% were in the pubertal period. Twenty-eight patients were diagnosed with primary and 12 patients with secondary pseudotumor cerebri. Headache was the most common complaint of the patients. All patients received medical treatment. A lumboperitoneal shunt was replaced in one patient who did not respond to treatment. Conclusion: The signs and symptoms of our patients were compatible with the literature. Obesity was a factor in 53.5% of the primary pseudotumor cerebri patients while the causes for secondary pseudotumor cerebri were similar to the literature and most of them responded to medical treatment. It was determined that the use of old and new diagnostic criteria would not make a difference in terms of diagnosis and treatment.

PubMedID: 28694135 Objective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (

Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially.

Peripapillary choroidal neovascular membrane (CNVM) may develop in papilledema related to idiopathic intracranial hypertension. The authors present a teenaged boy who responded well to one dose of intravitreal ranibizumab injection. [ J Pediatr Ophthalmol Strabismus. 2017;54:e27–e30.]

The aim of this study is to investigate the associations between febrile seizure and serum levels of vitamin B12, folic acid, and homocysteine. One hundred and four children who presented with febrile seizure and 75 controls who presented with febrile illness unaccompanied by seizure were enrolled into the study. Mean levels of vitamin B12, folic acid and homocysteine were compared between two groups. Mean vitamin B12 level in the febrile seizure group was significantly lower than the control group. The febrile seizure patients with 3 or more had significantly lower serum folic acid than the subgroups with two or one episode only. Serum concentrations of folic acid were significantly lower in the febrile seizure subgroup with body temperature 37.5-39.0˚C at time of convulsion. Low serum vitamin B12 may reduce a child's threshold for seizure and may be a risk factor for febrile seizure. Low serum folic acid level may be predisposed to recurrent febrile seizure.

Generalized edema can occur during the course of juvenile dermatomyositis. In this article, a 4-year-old boy with generalized nonpitting edema and proximal weakness is reported. Characteristic cutaneous lesions, laboratory tests, results of electromyography, and magnetic resonance imaging findings resulted in a diagnosis of juvenile dermatomyositis. He was treated with corticosteroids and methotrexate. It is concluded that the generalized edema may appear as the presenting cutaneous manifestation of juvenile dermatomyositis.

Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT), a rare disorder in individuals of all age groups, including children, is characterized by high titers of anti-thyroid peroxidase antibodies. The present report concerns a previously healthy 12-y-old boy who presented with motor tics. The patient underwent an extensive work-up to identify the underlying etiologies and risk factors predisposing him to tic disorder. Based on the clinical and laboratory results, a diagnosis of SREAT was made. Although some studies have reported associated behavioral and cognitive changes, myoclonus, seizures, pyramidal tract dysfunction, psychosis, and coma. The authors describe a case of tic disorder, probably due to SREAT, as well as its course of treatment.

Levetiracetam is one of the new anticonvulsant drugs that has a high therapeutic index and potential antiepileptogenic effects. Herein, we report a patient with multidrug refractory epilepsy and Ohtahara syndrome who was accidentally administered 300 mg/kg/d for 35 days by her mother. To our knowledge, there are only a few cases of accidental overdose of levetiracetam in pediatric patients reported in the literature, and this case study is the first to report such a high and long-term dose in an infant who showed no adverse effects.

Aim This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Materials and method Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.

In this retrospective study, we evaluated the clinical responses to antiepileptic drug (AED) therapy in pediatric epilepsy patients treated at a single center. Materials and methods: We identified 28 children with intractable epilepsy and 213 patients with drug-responsive epilepsy. Results: Univariate analysis showed that age at onset, high (daily) initial seizure frequency, infantile spasm, history of neonatal seizures, abnormal neurodevelopmental status, neurological abnormalities, mental retardation, remote symptomatic etiology, and abnormal brain imaging results were significant risk factors for the development of intractable epilepsy (P < 0.05). Multivariate logistic regression analysis revealed that high (daily) initial seizure frequency and remote symptomatic etiology were significant and independent risk factors for intractable epilepsy (P < 0.05). Conclusion: Our study suggests that the risk of developing intractable epilepsy in childhood may be predicted, to some extent, by the early clinical course. Early identification of patients at high risk of developing intractable epilepsy will guide appropriate therapy and reduce exposure to ineffectual treatments.

Hashimoto's encephalopathy is an underdiagnosed, steroid-responsive, progressive or relapsing encephalopathy associated with high titers of serum antithyroid antibodies. Although Hashimoto's encephalopathy is well documented in adults, it is rarely observed or studied in children and adolescents. We describe the clinical and laboratory findings of four children (aged 9-15 years) with Hashimoto's encephalopathy. The clinical features of two patients at presentation included epileptic seizures and confusion. The other presenting signs included breath-holding spells, behavioral problems, psychosis, and ataxia (one patient each). During their presentation, three patients were euthyroid, and one was hyperthyroid. All patients manifested increased antithyroid antibodies, and all improved with steroid treatment. Hashimoto's encephalopathy is rarely suspected at presentation. Therefore, greater awareness of its signs by clinicians is necessary for proper diagnoses.

Recurrent painful ophthalmoplegic neuropathy, typically seen as a serious childhood migraine attack which is followed by ptosis and diplopia due to oculomotor nerve palsy. This is regarded as a form of migraine in the previous classifications but according to the latest classification of the International Headache Society has been recognized as cranial neuralgia. Due to the poor pathological and radiological findings of oculomotor nerve during attack, it is difficult to make differential diagnosis. In this manuscript we report 11-year-old female patient with ophtalmoplegic migraine., Tekrarlayan ağrılı oftalmoplejik nöropati; tipik olarak çocukluk çağında izlenen, ciddi migren atağı sonrasında okülomotor sinir felcine bağlı gelişen pitozis ve diplopi tablosudur. Daha önceki sınıflamalarda migrenin bir formu olarak değerlendirilirken, Uluslararası Baş Ağrısı Derneğinin son sınıflamasında kranial nevralji olarak kabul edilmiştir. Atak esnasında okülomotor sinire ait patolojik ve radyolojik bulguların oldukça az olması nedeni ile ayırıcı tanı güçleşmektedir. Bu yazıda, tekrarlayan ağrılı oftalmoplejik nöropati tanısı alan 11 yaşındaki kız hasta sunulmuştur.

This study compared superoxide dismutase (SOD) and catalase (CAT) alleles in 97 consecutive children and adolescents with migraine to 96 healthy children and adolescents. Isolated genomic DNA was used as a template for SOD1 (35 A/C), SOD2 16 C/T, and CAT2 [(–262 C/T) and (–21 A/T)] allele genotyping. The SOD2 16 C/T genotype and C allele frequency differed significantly between controls and migraine ( P = .047; P = .038). CAT –21 AA genotype and A allele frequency were significantly higher in both migraine with aura patients ( P = .013; P = .004) and migraine without aura patients ( P = .003; P = .001) compared to controls. To our knowledge, this is the first demonstration of differences in SOD and CAT genotypes between pediatric migraine patients and age-matched controls. Further studies on the functional implications of these genetic variants on neural antioxidant capacity and the use of antioxidant modulators for migraine treatment are warranted.

Peripheral facial nerve paralysis in children might be an alarming sign of serious disease such as malignancy, systemic disease, congenital anomalies, trauma, infection, middle ear surgery, and hypertension. The cases of 40 consecutive children and adolescents who were diagnosed with peripheral facial nerve paralysis at Baskent University Adana Hospital Pediatrics and Pediatric Neurology Unit between January 2010 and January 2013 were retrospectively evaluated. We determined that the most common cause was Bell palsy, followed by infection, tumor lesion, and suspected chemotherapy toxicity. We noted that younger patients had generally poorer outcome than older patients regardless of disease etiology. Peripheral facial nerve paralysis has been reported in many countries in America and Europe; however, knowledge about its clinical features, microbiology, neuroimaging, and treatment in Turkey is incomplete. The present study demonstrated that Bell palsy and infection were the most common etiologies of peripheral facial nerve paralysis.

A previously healthy girl, age 3 years 9 months, presented with right-sided hemiparesis and seizures. Ischemic infarction was confirmed through magnetic resonance imaging and magnetic resonance angiography. Extensive evaluation to discover the underlying etiologies and risk factors predisposing this patient to stroke included coagulation defects, cardiac anomalies, congenital inborn metabolism deficiency, and infections and trauma. Based on the clinical and laboratory results, a diagnosis of homocystinuria was made. Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Although homocystinuria is usually associated with ischemic strokes, the sudden onset of stroke as the initial clinical presentation of homocystinuria is very rare in early childhood. Based on this case, however, metabolic screening for hyperhomocystinemia is recommended in any child presenting with a stroke.

Objective Niemann-Pick type C is an autosomal recessive degenerative disease that can present in infancy, childhood, or adulthood. It is characterized by accumulation of free cholesterol and glycosphingolipids in the endosomal-lysosomal system, and is caused by mutations in the NPC1 or NPC2 gene. To date, Approximately 200 mutations have been described in Niemann-Pick type C1, but no homozygous V1023I (GTT>ATT) mutation have yet been reported. Methods We report a 13-year-old girl born to a first degree consanguineously married couple at term by normal delivery. The patient's history indicated that she was diagnosed with epilepsy for eight months. A month before referral to the hospital, her seizure had gone out of control and despite the patient's frequent visits and increased drug dose, the treatment had not been successful. On examination the patient had vertical supranuclear ophthalmoplegia. Slow speech, dysarthria, head titubation and truncal ataxia were noted. Ultrasonography of abdomen shows moderately enlarged liver and spleen. MRI of brain was normal. This presentation was suggestive of a lysosomal storage disorder and lysosomal enzyme activity and genetic testing was performed. Results The analysis of the NPC 1 gene identified a homoallelic V1023I (GTT>ATT) mutation. Both parents were heterzygous carriers of V1023I (GTT>ATT) mutation in the NPC 1 gene. Conclusion Niemann-Pick type C is a neurovisceral disease, with a highly heterogeneous presentation and is characterized by progressive neurological deterioration. Patients can show visceral, neurological and psychiatric manifestations which present alone or in different combinations To the best of our knowledge, this is the first report of a novel homozygous V1023I (GTT>ATT) mutation in NPC1 gene which is associated with Niemann-Pick type C disease.

There is no information about the role of transforming growth factor–beta 1 (TGF-β1) in the pathogenesis of pediatric migraine. This study included 100 consecutive children and adolescents in whom migraine was diagnosed and 88 healthy children and adolescents. The isolated genomic DNA was used as a template for TGFβ-1 (–800G/A, –509C/T, 869T/C [codon 10] and 915G/C [codon 25]) genotyping. The allelic frequency of 509C/T was significantly different between control and migraine without aura patients ( P = .04). Codon 10 C/T genotypic and C10 C allelic frequency of TGF-β1 polymorphisms were significantly higher in migraine and migraine without aura patients versus healthy controls ( P = .00; P = .00). To our knowledge, this is the first report dealing with the relationship between TGF-β1 genotype and migraine in the pediatric age group. Further studies related to this subject are needed, along with a search for new therapeutic agents with anti-inflammatory properties.

Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al ( J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient’s situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.

The purpose of this study is to determine whether hyperthermia-induced hyperventilation with subsequent hypocapnia is relevant to febrile seizures in children. This is only the second study to measure pCO2 and pH values in children with febrile seizures. This prospective case-control study enrolled 18 children who presented with febrile seizures and 18 children who presented with a febrile illness without seizures. Venous blood gas analyses were measured both from the febrile seizure and control group. There was no significant difference in mean blood pH between the febrile seizure and control groups but blood pCO2 was significantly lower in the febrile seizure group. Patients with complex febrile seizures exhibited significantly lower pCO2 levels within 1 hour of seizure onset than patients with simplex febrile seizures. These data indicate that febrile seizures may be associated with hyperventilation and that the ensuing hypocapnia may contribute to the development of febrile seizures.

Varicella (chickenpox) is a common childhood infection caused by the varicella-zoster virus, which is often self-limiting and usually benign. Although uncommon, neurologic complications of varicella have been documented that include postinfectious cerebellar ataxia, meningoencephalitis, Reye syndrome, myelitis, optic neuritis, stroke, Guillain-Barré syndrome, seventh cranial nerve palsy, and Ramsay-Hunt syndrome. In this case study, the authors describe a 7-year-old girl who presented with varicella skin rash with unsteady gait and anarthria on day 2, and her condition was attributed to cerebellar mutism. To date, this complication has never been reported in a child with primary varicella infection. Therefore, this case study documents a rare but serious complication of childhood chickenpox.

Acute transverse myelitis is a rare Borellia burgdorferi –related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi –related transverse myelitis in children. We describe here the sixth child with borreliosis-related transverse myelitis.

Introduction A mutation at nucleotide position 3435 in exon 26 of the multidrug resistance 1 (MDR1) gene is the most frequently studied polymorphism in relation to multidrug resistance. However, there are conflicting data as to whether the CC or TT genotype of the 3435C>T polymorphism is associated with drug resistance. Methods and results: We investigated the association between this polymorphism in drug-resistant childhood epilepsy by comparison with drug-responsive patients. In total, 59 patients with drug-resistant epilepsy, defined as having four or more seizures within a 12-month period while using three or more AEDs, 60 children with drug-responsive epilepsy who had remained seizure-free for 12 months on their current AED regimen and 76 healthy children were involved in this study. Genotype frequencies in drug-resistant patients were as follows: 32.2% CC, 44.1% CT, 23.7% TT; in the drug-responsive group: 20.0% CC, 50.0% CT, 30.0% TT; in the control group: 24.3% CC, 50.0% CT, 25.7% TT. Comparison of drug-resistant and drug-responsive patients revealed no significant difference in genotype frequency. The findings of the epilepsy patients were not significantly different from those of the healthy control subjects. Conclusions: Our study does not support any significant association between the MDR1 polymorphism and drug-resistant childhood epilepsy.

Gastroenteritis-related seizures have increasingly gained attention in recent years. Most cases follow a brief, benign course with very few episodes of seizure recurrence and without development of epilepsy. Published reports usually do not make a distinction between febrile and afebrile patients, and most authors include only nonfebrile convulsions in their reported series. This study evaluated the impact of fever in children presenting with seizures during a mild gastroenteritis episode and found that the presence or absence of fever did not affect seizure characteristics or duration. However, mild hyponatremia affected some seizure features, particularly seizure duration, as hyponatremic children sustained more prolonged seizures than patients with normal serum sodium levels, irrespective of body temperature.

An 8-year-old boy developed acute disseminated encephalomyelitis, 2 weeks after an episode of acute rheumatic fever. The disease was succesfully treated with high-dose methylprednisolone. A wide range of neurologic disorders is associated with streptococcal disease. Poststreptococcal acute disseminated encephalomyelitis was previously reported in children, but to our knowledge, this is the first case report of rheumatic fever complicated by acute disseminated encephalomyelitis. This case supports the hypothesis that rheumatic fever, a late complication of streptococcal infections, may be associated with acute disseminated encephalomyelitis.

This article presents the case of a female newborn with irritability, increased tonus, jitteriness, and eating difficulties who was referred to our institution. Her mother had been taking fluoxetine (20 mg daily) during the second and third trimesters of her pregnancy. The infant's signs began on the first day after birth and persisted for 6 weeks. Extensive investigations excluded infective, genetic, and metabolic causes, and a provisional diagnosis of fluoxetine withdrawal was made. There have been few reports of neonatal complications following maternal fluoxetine hydrochloride treatment. According to these, signs occurred within a few days after birth and lasted up to 4 weeks. To our knowledge, our patient demonstrated the longest duration of signs reported to date. We recommend that physicians be aware of these complications in newborns after fetal exposure in utero to selective serotonin reuptake inhibitors. These neonates should be followed-up closely for adverse signs during the first days of life so that signs can be recognized and treated if necessary.

Bu yazıda akut batın nedeni ile opere olan, gastrointestinal cerrahi sonrası dönemde tiamin desteği olmaksızın, total parenteral beslenme alan ve Wernike ensefalopatisi (WE), gelişen olgu sunulmuştur. Cerrahların, çocuk nörologlarının, pediatristlerin ve radyologların, WE için risk faktörlerini ve hastalığın belirti ve bulgularını iyi bilmeleri, klinisyenlerin, oftalmopleji, ataksi veya mental durum değişikliklerinin WE’ne ait bulgular olabileceğini akılda tutmaları gerekir.

Objective This study was designed to describe clinical features and course of a child with anti-N-methyl D-aspartate receptor (NMDA) receptor encephalitis. Methods We present a 7-year-old girl with tumor-negative anti-NMDA receptor encephalitis. Results A previously healthy 7-year-old girl presented with two generalized tonic clonic seizures. She underwent an extensive workup, including cranial MRI and EEG. All results were unremarkable. She was diagnosed with epilepsy and discharged with phenitoin. She was readmitted with complaints of new seizures, choreodystonic movements, oromotor dyskinesia and dysarthria 3 days after the discharge. CSF analysis showed a mild pleocytosis. Acyclovir, cefotaxime, and clarithromycin were administered empirically. Repeated cranial MRI was normal. Video EEG monitoring indicated focal seizures originating from the temporal region of the left hemisphere. The patient required midazolam anesthesia for nearly 15 days. IVIG was started on day 2 of second admission. Carbamazepine, valproic acid, topiramate and clobazam were added respectively. Pulse methylprednisolone treatment was started on day 7 of second admission for 3 days continued with oral prednisone. Several days afterward, she became aphasic and seizures were continued. Therefore she then underwent a 7 course of plasma exchange. On day 18 of second admission, NMDA receptor antibody was reported as positive. Rituximab treatment was added weekly (375 mg/m 2 10 weeks). In addition, she took 1 mg/kg/day of prednisone for 5 months which was tapered and treatment continued with oral azathioprine and IVIG with 3 weeks interval. Over the course of 8 months, seizures stopped completely. However she continues to be nonverbal and required maximal assistance in mobility. Conclusion Recovery from Anti-NMDA receptor encephalitis is slow and the patients may have some disturbances in their motor function and cognition. The pathologic mechanism has been elucidated gradually but the optimal treatment has not yet been clarified. Therefore effective treatment strategies should be developed for intractable cases.

Objective To present contrast-enhanced brain and spinal MR imaging findings two patients with metachromatic leukodystrophy (MLD). Methods The patients presented with walking and speech disorders. The patients underwent contrast-enhanced brain and lumbar spine MR imaging. Results T2-weighted images of the brain showed abnormal hyperintensity in the deep and periventricular white matter. Postcontrast T1-weighted images of the brain showed enhancement of the cranial nerves. Postcontrast T1-weighted images of the lumbar spine displayed enhancement of the cauda equina. Conclusion MLD is one of the more common leukodystrophies with well-documented white matter findings. The contrast enhancement of cranial nerves and cauda equina may accompany the white matter findings of MLD. Contrast-enhanced brain and spinal MR imaging may prove useful in diagnosing or differentiating the various leukodystrophies.

Objective Farber disease is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in enzyme acid ceramidase that causes an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. To date, less than 25 distinct mutations have been identified in farber patients, but no homozygous c.92G>T mutation have yet been reported. Methods A five-month-old male presented at our institution with a hoarse cry, irritability and weak head control. His physical examination revealed coarse facial appearance, joint stiffness, axial hypotonia and hepatomegaly. Ophtalmoscopic examination revealed macular cherry-red spots. Serebral magnetic resonance imaging (MRI) was consistent with communicating hydrocephalus at six months of age. Serebral and servical spinal MRI revealed noduler soft tissue extension that involved cervicomeduller junction at the atlantoaxial level at eight months of age. There were multiple subcutaneous nodules measuring 0.5 to 1 cm in diameter over the interphalangeal joints of the hand appeared at the age of 16 months. There were no evidence of urine mucopolysaccharide or oligosaccharide screen. Urinary sialic acid were normal. Through the analysis of lysosomal enzymes activities revealed normal. The plasma chitotriosidase was raised 3654umol/lhr, (normal of 4–120). The diagnosis of Farber lipogranulomatosis was suggested and gene sequencing of the ASAH1 gene confirmed the diagnosis of Farber disease Results A homozygous c.92G> T mutation was found in our patient. Conclusion Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. To the best of our knowledge, this is the first report of a novel homozygous c.92G> T mutation in ASAH1 gene which is associated with Farber disease

Recurrent painful ophthalmoplegic neuropathy, typically seen as a serious childhood migraine attack which is followed by ptosis and diplopia due to oculomotor nerve palsy. This is regarded as a form of migraine in the previous classifications but according to the latest classification of the International Headache Society has been recognized as cranial neuralgia. Due to the poor pathological and radiological findings of oculomotor nerve during attack, it is difficult to make differential diagnosis. In this manuscript we report 11-year-old female patient with ophtalmoplegic migraine. [Cukurova Med J 2014; 39(4.000): 938-941]