Bijoy Patra

Clinical spectrum and treatment outcome of West Syndrome in children from Northern India

PURPOSE This study was intended to document the clinical profile and treatment outcome of West syndrome in children attending a tertiary care center in Northern India. METHOD Data were collected by a retrospective chart review of children diagnosed with West syndrome between January 2008 and January 2012. Information was recorded pertaining to the age at onset and presentation, etiology, and associated co-morbidities; results of electroencephalography (EEG) and neuroimaging; treatment given; and final outcome. The following drugs were used for treatment: pyridoxine, prednisolone, vigabatrin, sodium valproate, nitrazepam, topiramate, and levetiracetam. The response was categorized as spasm cessation, partial improvement (>50% improvement), or no improvement. The final outcome was considered favorable when there was a complete cessation of spasms; with absence of relapse and no progression to other seizure types for at least 6 months. RESULTS Records of 148 children (120 boys) were analyzed. The mean (SD) age at onset and presentation was 5.3 (4.6) months, and 13.1 (7.3) months, respectively. Perinatal asphyxia (61.4%), neonatal sepsis/meningitis (10.6%), and postnatal meningitis (11.4%) were the predominant causes. The etiology could not be ascertained in 16.6% of children. Favorable outcome was observed in 45 (30.4%) children with spasm cessation rate of 25.4% with prednisolone. Age at onset, gender, time lag to treatment, presence of perinatal asphyxia, or co-morbid cerebral palsy did not affect the final outcome. CONCLUSION This study highlights the developing country perspective of children with West syndrome, including delayed presentation, adverse perinatal events as the predominant etiology, and modest response to oral steroids.

Rosai-dorfman Disease: A Case With Lymphadenopathy and Liver Involvement

Rosai-Dorfman disease (RDD), originally described as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic proliferative disorder with a distinctive microscopic appearance. Formerly thought to be a disease process limited to lymph nodes, RDD has now been reported in many organ systems like bone, skin and soft tissue, central nervous system, eye and orbit, and upper respiratory tract. Here we report a case of RDD with hepatic involvement, which is even more rare.

Spinal congenital dermal sinus presenting as a diagnostic conundrum.

Spinal congenital dermal sinus is a rare entity. Still rarer is its location over the thoracic and cervical spine. Secondary to congenital dermal sinus, intramedullary abscesses of the spinal cord are uncommon. Only few cases of such an association have been reported in the literature. We report such an interesting case of thoracic spinal congenital dermal sinus associated with intramedullary abscess in an 18-month-old boy who presented with a diagnostic conundrum. The pathogenesis, clinical presentation, neuroimaging and management of such cases are discussed. Awareness, detection, timely referral and definitive operative intervention for a better neurological outcome are emphasized.

Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.

Congenital erythropoietic porphyria is a rare disorder of heme biosynthesis, resulting from decreased enzymatic activity of uroporphyrinogen III synthase. Clinical manifestations are heterogenous, of variable severity, and with occasional phenotypic-genotypic correlation. A 14-month-old boy developed fever, extensive dermatitis, and reddish colored urine. Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria. Although hemolysis remained mild and compensated, facial and digital mutilation developed indicative of moderate clinical phenotype. Mutational analysis revealed compound heterozygosity of mutant alleles, including a novel mutation (p.Pro190Leu). The child received supportive management and underwent facial reconstruction successfully.

Pendred Syndrome in a Newborn with Neck Swelling: A Case Report

BACKGROUND Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism. Further evaluation revealed moderate sensorineural hearing loss; genetic analysis showed that baby was homozygous for the known mutations causing the disease. INTERVENTION Thyroid hormone replacement and hearing habilitation were done. Follow up showed regression of the neck mass and normalization of thyroid function tests. Genetic counseling of the family was done. MESSAGE Identification of the exact cause of congenital hypothyroidism can prevent grave consequences later on for the patient as well as for the family.

Cor pulmonale in a case of infantile Gaucher's disease

Infantile Gauchers disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gauchers disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typical of interstitial and airspace disease. Cor pulmonale in this patient was a result of severe pulmonary hypertension.

Chronic idiopathic myelofibrosis with myeloid metaplasia presenting as refractory ascites.

Chronic idiopathic myelofibrosis (CIM) with myeloid metaplasia is a myeloproliferative disorder characterized by leukoerythroblastosis, tear drop erythrocytes, extra‐medullary hematopoesis (EMH), and varying degree of myelofibrosis. CIM, presenting as refractory ascites secondary to peritoneal hematopoesis, is extremely rare with only six adult cases reported in literature. This is a report of a child with CIM presenting as refractory ascites as a consequence of EMH in the peritoneum. The patient was treated with intermittent hydroxyurea with favorable response over 3 weeks. The patient was thereafter lost to follow up. Pediatr Blood Cancer 2010; 54:151–153.

Fixation-off Sensitivity in Idiopathic Childhood Occipital Epilepsy of Gastaut

A 7-year-old boy presented with episodic blindness for the last 2 months with occipital paroxysms and fixation-off sensitivity on electroencephalography (EEG). The clinico-EEG features were suggestive of idiopathic childhood occipital epilepsy of Gastaut. The interesting phenomenon of fixation-off sensitivity is discussed.