Taraknath Ghosh

Joubert syndrome: the molar tooth sign of the mid-brain.

Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease. The importance of recognizing JS is related to the outcome and its potential complications. Prenatal diagnosis by ultarsonography and antenatal magnetic resonance imaging (MRI) is also possible. We have diagnosed a case of JS in a male infant with history of delayed mental and motor milestone development, history of abnormal breathing pattern, abnormal limb movement, generalized hypotonia and abnormal head movements with nystagmus. MRI showed hypoplastic cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain.

Menkes kinky hair disease: A case report

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.

Hydatid cyst in rectus abdominis muscle in a child: An unusual occurrence

Hydatid cysts usually involve the liver; extrahepatic localization is reported in 11% of all cases of abdominal hydatid disease. Cyst at unusual localization includes kidney, heart, spleen, pancreas and brain. Isolated involvement of muscle is also rare in children. Here is a case of hydatid cyst in a female child involving the rectus abdominis muscle, which is a very rare presentation. There were no cysts in any other location. Serological tests were negative for cystic echinococcosis. The patient was operated on and the cyst was completely excised. The pathologic examination confirmed the diagnosis of hydatid cyst.

Oropharyngeal true teratoma

Oropharyngeal teratoma in newborn is very rare. Here we report a case of oropharyngeal true teratoma where a 17-day-old female baby presented with a protruding mass from oropharynx with episodic respiratory distress and feeding difficulty complicated by aspiration pneumonia, and treated successfully with coordinated team approach.

A study on serum electrolyte status in children admitted with acute febrile encephalopathy in a rural tertiary care hospital

Objectives: To study the changes in serum electrolytes with special emphasis on serum sodium status in children admitted with acute febrile encephalopathy. Material and Methods: A hospital based observational prospective study involving 120 children between1 to 12 years of age group who were admitted with fever and altered sensorium with or without convulsion, headache or vomiting, and whose total duration of illness was less than 2 weeks; was conducted in the department of Pediatrics of Burdwan Medical College and Hospital, over a period of one year. Results: The mean age of the children included in the study was 72.4 months. 20% children were in the age group of 1 to 3 years, 34.16% in the age group of 3 to 6 years and rest (45.84%) were in the age group of 6 to 12 years. 58.33% were male, 41.66% were female. Hyponatremia and low bicarbonate were the predominantly noticeable electrolyte changes on admission. Mean serum sodium on admission was 133.39 ± 5.63 mEq/L and after 48 hours was 139.60 ± 3.24 mEq/L. Mean bicarbonate on admission and after 48 hours were 21.59 ± 1.72 and 23.94 ± 1.81 mEq/L, respectively. Both these differences were statistically significant (p=0.000 in both cases). However serum level of potassium, calcium and chloride were not significantly changed. Conclusion: An idea of serum electrolyte changes in children with acute febrile encephalopathy can help us to initiate appropriate fluid therapy early in the course of management and thus can prevent or reduce mortality and morbidity.

Auricular Blister, A Rare Transfusion Reaction.

A 11⁄2-yr-old boy, known case of β thalassemia major developed erythematous, mildly pruritic, non-tender blisters on both pinnae (Fig. 1), after packed red blood cell transfusion. These lesions persisted, even after stopping transfusion, for next two days. Aspiration of the fluid from the blisters showed predominance of eosinophils without any pus cells; fluid culture was also sterile. We treated the patient with oral cetrizine (antihistamine), and the lesions subsided after 48 hours without any residual pigmentation or scarring. Auricular blisters may occur due to delayed type of hypersensitivity reaction in allergic and irritant contact dermatitis where in the acute phases, the skin is erythematous, edematous, and pruritic. Small papulovesicular lesions with exudation and crusting are also present. However, auricular blisters following acute transfusions have not been reported earlier. Other differential diagnoses are otohematomas (unilateral, nonpruritic and follows trauma), lymphocytoma (an infection caused by Borellia burgdorferi that usually occurs on ear margin or lobe and typically appears as erythematous, FIG. 1 Auricular blister after blood transfusion.