Search

Summary Background HWW syndrome is a very rare congenital anomaly of urogenital tract involving Mullerian ducts and mesonephric ducts. It is characterised by a triad of symptoms - uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. It can be classified based on a completely or incompletely obstructed hemivagina. It presents soon after menarche or shows delayed presentation depending on the type. It can exhibit acute pelvic pain shortly after menarche and may show non-specific and variable symptoms with resultant delay in diagnosis. The most common presentation is pain and dysmenorrhea, and pain and abdominal mass in the lower abdomen secondary to haematocolpos and/or haematometra. Case Report Presentation of a clinical case of a 13-year-old patient with HWW syndrome presenting with regular menses, dysmenorrhea and painful lump in hypogastric region on the left side of midline. We described the role of imaging modalities in diagnosis of the Herlyn-Werner-Wunderlich syndrome with a review of literature. USG and MRI showed left renal agenesis with compensatory hypertrophy of the right kidney, uterus didelphys with haematometra and haematocervix in the left uterus with evidence of blood in a dilated retort-shaped left fallopian tube and a normal right uterus. The unique feature of our case is haematometra and haematocervix with cervical and vaginal atresia found on the left side (classification 1.2) with associated left renal agenesis. Conclusions HWW syndrome can present early or late, depending on the type. In patients with uterine and vaginal abnormalities, a work-up for associated renal anomalies should be performed. Early intervention is needed to reduce the risk of endometriosis and infertility.

Background: HIE is one of the most common cause of neonatal deaths and morbidity in children. Due to limited facilities in India, many a times HIE goes undetected only to present in later stages of life as handicapped children. Objective: To study the Magnetic Resonance Imaging (MRI) brain findings in children having suffered perinatal hypoxia, to analyze MRI findings in brain based on time of perinatal hypoxia. Material and Methods: A prospective Study was conducted on 100 patients suffered with perinatal hypoxia on Siemens 1.5 Tesla MAGNATOM AVANTO machine. Patterns of hypoxic ischemic brain injury in preterm and term infants of were evaluated. Results: Out of 100 cases, 72% were abnormal and 28% were normal studies. 36 %patients were preterms and 64% had term delivery. In patients with term delivery, 28.1 % were normal and 71.8 % were abnormal. In patients with preterm delivery, 72.3% cases were found to be abnormal while 27.7 % cases did not show any significant abnormality. Conclusion: MRI was a definitive diagnostic modality in perinatal hypoxia. Patterns of brain injury were determined by nature, timing and severity of insult. Imaging appearances were influenced by sequences used and time from injury.

Interrupted aortic arch (IAA) is a rare congenital vascular malformation, which is defined as lack of luminal continuity, between the ascending and descending thoracic aorta. Many times it is associated with various congenital cardiac anomalies. Early diagnosis is mandatory to assess the patient condition and to plan medical and surgical treatment. Traditionally, chest X-ray, echocardiography, and conventional catheter angiography are the imaging tools being used. Multi-detector computed tomography (MDCT) can accurately diagnose and characterize the various forms of IAA and associated cardiac defects. We report a case of 8-year-old male child detected to have Type A IAA on MDCT with an associated ventricular septal defect and patent ductusarteriosus.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus and upper 2/3 rd of vagina with a normal 46, XX karyotype and normally developed secondary sexual characteristics. It affects 1:4000 women. It may be isolated (Type I) or frequently associated with renal, vertebral anomalies and less frequently associated with auditory, cardiac defects (Type II). It presents with primary amenorrhea in young women with normal external genitalia and normal development of secondary sexual characteristics with normal functioning ovaries and karyotype 46, XX without visible chromosomal anomaly. It was considered as sporadic anomaly but an increasing number of familial cases is suggestive of genetic cause in whom it is transmitted as autosomal dominant trait with incomplete penetrance and variable expressibility. This is suggestive of involvement of mutation in a major development gene or a limited chromosomal imbalance. Etiology of MRKH syndrome is still unclear. In order to allow sexual intercourse, treatment is aimed at creation of neovagina. Patients and their families must attend counseling before and throughout treatment as psychological distress is very important in young women with MRKH. We hereby report a rare case of MRKH syndrome in a 19-year-old married female patient presenting with primary amenorrhea, coital difficulty and no other clinical disorder.

Thyroid hemiagenesis (THG) is a rare congenital anomaly in which one lobe of thyroid gland fails to develop. Agenesis may be unilateral, total or isthmic. Left thyroid lobe is commonly involved than right lobe in hemiagenesis. Clinically patients can be euthyroid, hypothyroid or hyperthyroid. Often it is diagnosed as an incidental finding during ultrasonography (USG) study of neck, which easily diagnose this condition. Actual incidence of THG is unknown, most cases are diagnosed in patients admitted for thyroid scan or thyroid surgery because of suspicion of other thyroid abnormalities. This explains high frequency of association of hemiagenesis with other thyroid abnormalities such as multinodular goiter, adenoma, hyperthyroidism, hypothyroidism, chronic thyroiditis, and carcinoma. We report a case of 58-year-old male patient detected to have hemiagenesis of left thyroid lobe and isthmus when USG neck was performed for carcinoma right buccal mucosa with metastatic cervical lymphadenopathy.

Pulmonary alveolar microlithiasis (PAM) is a rare chronic lung disease characterized by deposition of intra alveolar calcium and phosphate in bilateral lung parenchyma with predominance in lower and mid zones. Etiology and pathogenesis is not fully understood. However, mutation in SLC34A2 gene that encodes a sodium phosphate co-transporter in alveolar type-II cells resulting in formation and accumulation of microliths rich in calcium phosphate due to impaired clearance is considered the cause of disease. Patients with PAM are asymptomatic till development of hypoxemia and cor pulmonale. It remains static, while in some it progresses to pulmonary fibrosis, respiratory failure and cor pulmonale. We report a case of 44 year old male patient presenting with progressive shortness of breath on exertion for one year in duration with dry cough, more since last six months. Chest radiograph showed dense micronodular opacities giving classical sandstorm appearance. High resolution computed tomography (HRCT) showed microcalcification, subpleural cystic changes and calcified pleura. Lung biopsy showed calcospherites within alveolar spaces.

Muscle hernia is an uncommon cause of leg swelling. It can be detected in the early stages only if there is a high index of suspicion. It is common in lower extremity compared to the upper extremity. Tibialis anterior muscle in the leg is commonly involved. Dynamic sonography and magnetic resonance imaging (MRI) are the mainstay in their diagnosis, which demonstrate a facial defect with herniation of muscle fibers. We report a case of 23-year-old male patient who presented with a painless swelling in the anterolateral aspect of the left upper leg. Dynamic sonography done with high-resolution probe demonstrated a defect in fascia overlying tibialis anterior with herniation of outer muscle fibers which increased during dorsiflexion and reduced in the supine position at rest. MRI of the left leg confirmed the findings.

Obturator hernia is a rare form of abdominal hernia and a diagnostic challenge. It is commonly seen in elderly thin females. Its diagnosis is often delayed with resultant increased morbidity and mortality due to bowel ischemia/gangrene. It is mistakenly diagnosed as femoral or inguinal hernia on USG. Computed tomography is diagnostic and is a valuable tool for preoperative diagnosis. This report presents a case of 70-year-old thin female presenting with intestinal obstruction due to left sided obstructed obturator hernia. USG showed small bowel obstruction and an obstructed left sided femoral hernia. CT scan of abdomen and pelvis with inguinal and upper thigh region disclosed left sided obturator hernia. It also detected clinically occult right sided obturator hernia. Early diagnosis and surgical treatment contribute greatly in reducing the morbidity and mortality rate.