Fetal Hyperthyroidism: Intrauterine Treatment with Carbimazole in Two Siblings.

Hyperthyroidism can manifest very early in fetal life (fetal thyrotoxicosis) or immediately after birth (neonatal thyrotoxicosis). The authors describe outcome of pregnancies in a woman with Graves' disease who received medical management and underwent subtotal thyroidectomy. The first pregnancy resulted in macerated stillbirth at 32 wk. Fetal tachycardia was followed by intrauterine death at 30 wk in the second pregnancy and macerated stillbirth at 26 wk in the third pregnancy. Fetal tachycardia was detected at 17 wk in the fourth pregnancy. Treatment with carbimazole along with thyroxine was followed by a live birth at 35 wk; but the baby developed severe fatal neonatal thyrotoxicosis with crisis on day 9 and died on day 12. Fetal tachycardia was noted in the fifth pregnancy as well and she was treated with carbimazole and thyroxine. She delivered a male baby at 37 wk. He developed neonatal hypothyroidism on day 8 which was controlled with thyroxine.

Pediatric Sjogren syndrome with distal renal tubular acidosis and autoimmune hypothyroidism: an uncommon association.

A 14-year-old female came with the history of sudden onset weakness; during work up, she was found to have hyperchloremic metabolic acidosis with normal anion gap and normal renal function suggesting the possibility of renal tubular acidosis (RTA). On further evaluation of RTA, she had positive antinuclear antibody, anti-Ro, and anti-La antibodies. On nuclear scan of salivary glands, her left parotid gland was nonfunctional. Her parotid biopsy revealed dilated interlobular ducts engulfed by lymphoid cells. She also had autoimmune hypothyroidism as suggested by raised TSH and positive anti-TPO antibodies. At admission, her serum potassium levels were low and she was treated with intravenous potassium chloride. After she recovered from acute hypokalemic paralysis, she was started on oral potassium citrate along with phosphate supplements, hydroxychloroquine, oral prednisolone and thyroxine supplements. Over the next 6 months, she has significant reduction in the dosage of potassium, bicarbonate and phosphate and gained 3 kg of weight and 3.5 cm of height. As primary Sjogren syndrome itself is rare in pediatric population and its association with renal tubular acidosis is even rarer, we suggest considering Sjogren syndrome as a differential diagnosis during the RTA work-up is worth trying.

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.

We report a 2 month male child presenting with diabetic ketoacidosis (DKA) and seizures treated with intravenous fluids and intravenous insulin infusion till the ketoacidosis was reversed, thereafter responding well to sulphonylureas and at age of 13 months going into complete remission. At age of 11 months developmental delay in the form of negative neck holding and inability to sit without support was seen. The child is 3 years of age now, euglycemic without any insulin or oral hypoglycemic agents but has severe developmental delay. Genetic analysis was negative for mutations of KCNJ11, 6q24, Glucokinase and IPF-1 genes. A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.

Multidrug-resistant typhoid fever.

OBJECTIVE: To study the epidemiological pattern, clinical picture, the recent trends of multidrug-resistant typhoid fever (MDRTF), and therapeutic response of ofloxacin and ceftriaxone in MDRTF. METHODS: The present prospective randomized controlled parallel study was conducted on 93 blood culture-proven Salmonella typhi children. All MDRTF cases were randomized to treatment with ofloxacin or ceftriaxone. RESULTS: Of 93 children, 62 (66.6%) were MDRTF. 24 cases were below 5 years, 26 between 5-10 years and 12 were above 10 years. Male to female ratio was 1.85: 1. Majority of cases came from lower middle socio-economic classes with poor personal hygiene. Fever was the main presenting symptom. Hepatomegaly and splenomegaly was present in 88% and 46% cases respectively. 19 (30.6%) cases developed complications. Mean defervescence time with ceftriaxone and ofloxacin was 4.258 and 4.968 days respectively. CONCLUSION: MDRTF is still emerging as serious public and therapeutic challenge. Ceftriaxone is well-tolerated and effective drug but expensive whereas ofloxacin is safe, cost-effective and therapeutic alternative in treatment of MDRTF in children with comparable efficacy to ceftriaxone.

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.

OBJECTIVE: To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family. MATERIALS AND METHOD: This case report describes diagnosis of a novel homozygous mutation in PKLR gene that subsequently helped the family in the next pregnancy. RESULTS: Advancement in molecular genetics has resulted in the prenatal diagnosis of relatively uncommon genetic disorders like pyruvate kinase deficiency. CONCLUSION: This case reiterates the importance of application of molecular genetics in clinical practice and prenatal diagnosis especially for rare, incurable genetic disorders.

Congenital tuberculosis.

We report a case of congenital tuberculosis diagnosed by liver biopsy in a 8-week-old infant presented with acute abdomen. Liver biopsy showed multiple lymphoepitheloid cell granulomas with Langhans' giant cells and central necrosis. The culture of caseous material from the liver showed Mycobacterium tuberculosis . Antituberculous treatment was started. Endometrial biopsy in the asymptomatic mother confirmed the source of infection.

Pediatric tonsillopharyngitis--an evaluation of cefprozil in Indian patients.

OBJECTIVE: The emergence of penicillin resistant strains and the presence of co-pathogens have made the treatment of bacterial infections in children a challenge. Streptococcal tonsillopharyngitis, which is a common infection has been well treated with cefprozil, a novel third generation cephalosporin. The aim of the present study was to evaluate cefprozil in pediatric tonsillopharyngitis. An assessment of the clinical cure and bacteriological eradication rates and an overall tolerability was made. METHODS: It was a prospective, open, non-comparative multicentric study. 316 children (mean age 6.61 years) with tonsillopharyngitis were included. Patients were given cefprozil susp 15 mg/kg/day in two divided doses a day for 10 days. RESULTS: A clinical cure of 96.6% and bacteriological eradication of 94.29% was achieved with cefprozil. Overall tolerability of cefprozil was assessed by physicians and 46% rated tolerability of cefprozil as excellent, 38% as very good, 10% as good, 6% as fair and none as poor. CONCLUSION: Cefprozil has been found to be an excellent drug of superior microbiological and clinical activity in the treatment of pediatric patients with tonsillopharyngitis. The drug also has an expanded spectrum.

Efficacy and tolerability assessment of cefprozil in children with acute otitis media.

Young children contract as many as six to eight upper respiratory tract viral infections per year, and these infections frequently lead to secondary bacterial infections such as acute otitis media and sinusitis. Cefprozil is an orally active third generation cephalosporin which has demonstrated activity against the gram-positive organisms Streptococcus pyogenes, pneumoniae and agalactiae and against methicilin-susceptible Staphylococcus aureus. Cefprozil is also active against various gram-ves and certain anaerobic organisms, and is stable to hydrolysis by a number of b-lactamases. Present study is an effort to study the efficacy and safety of cefprozil in children with acute otitis media. Three hundred and thirty four children aged 6 months through 12 years with clinical symptoms and tympanic membrane signs of AOM received cefprozil 30 mg/kg/day in two divided doses per day for 10 days. Clinically, 96.6% patients were cured, 2.4% improved and there was failure of therapy in 1% of the patients. There was no need for any rescue medication and any change in antibiotic in any patient. A satisfactory bacteriological outcome was (i.e. cure, presumed cure, and cure plus reinfection with a different pathogen) was achieved in 95% of patients. In conclusion, cefprozil is a well tolerated and effective drug for acute otitis media in children. Moreover, its expanded spectrum of activity, ability to achieve adequate concentrations in tissues, suitability for twice-daily dosing, and proven tolerability suggest that it is a better alternative to agents conventionally used in acute otitis media.