An 11 year old male presented with headache, vomiting and weakness of right side of body. One day after admission he developed right focal seizures. He had 5 previous episodes of stroke, the first at 11 months age. His milestones were normal upto the first episode but subsequent mile stones were delayed. His serum and CSF lactic acids were raised. Muscle biopsy showed ragged red fibres on modified Gomori-trichrome staining. His EEG, CT scan and MRI were normal this time. The child improved spontaneously after 7 days. His recovery time progressively became shorter with each episode of stroke. Maximum time for recovery was noted during first episode and least in current episode. This is the first report of Melas syndrome in Indian literature.

Child↗

PubMedDate not supplied

Neonatal empyema thoracis.

Empyema thoracis, a serious complication of pneumonia, fortunately remains a less common cause of respiratory distress in neonates. Only 14 cases of neonatal empyema thoracis have been described in the world literature. The condition is characterized by its rarity, inability to identify any consistent predisposing factors, uncertain pathogenesis, rapid course, lack of consensus on management and a high mortality. We describe here two cases of empyema aged 6 and 8 days caused by E. Coli and Klebsiella respectively. Out of them one survived. A brief review of literature follows the above account.

Empyema, Pleural↗

PubMedDate not supplied

Lactosuria in lactose intolerance.

Explore the source record for details and available documents.

Child↗

PubMedDate not supplied

Syrinomelia bipus (mermaid) with meningocele.

Explore the source record for details and available documents.

Abnormalities, Multiple↗

PubMedDate not supplied

Familial male pseudohermaphroditism.

Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.

Adolescent↗

PubMedDate not supplied

Study of gene probes in childhood leprosy.

The objective was to detect nucleic acids of M. leprae in skin lesions of leprosy patients and study the effect of treatment on these nucleic acids, using r-RNA gene probes, using a cross sectional study. The study was carried out at Department of Paediatrics, S.N. Medical College, Agra and Department of Microbiology, Central JALMA Institute for leprosy, Agra. The study included 32 cases of leprosy less than 16 years of age, divided into 3 groups viz. without treatment (12 cases), in middle of treatment (11 cases) and at the end of treatment (9 cases). All cases were subjected to a detailed history and thorough clinical examination. All of them had smear examination and lepromin test done and their skin biopsies were subjected to gene detection. Nucleic acids were isolated from skin biopsies of all cases by standard procedure. After dot blotting of these nucleic acids, they were hybridised with radioactive (p32) r-RNA probes. The results were interpreted after getting the X-ray films processed with background signals from controls. Majority of cases were between 13-16 years of age. As age advanced, the disease moved from tuberculoid end of spectrum towards lepromatous end (p < 0.05). Majority of paucibacillary (PB) cases were lepromin positive while majority of multibacillary (MB) cases were lepromin negative (p < 0.05). In specimens of untreated cases, 50% of PB specimens and 87.5% of MB specimens were positive for r-RNA probes. In multibacillary type 100% smear positive specimens and 67% smear negative specimens were positive for r-RNA probes. In patients during the middle of treatment positivity for r-RNA decreased and 20% of PB specimens and 16.6% MB specimens were positive. At the end of treatment (1 year for PB cases and 2 years for MB cases), the results of r-RNA were negative, which indicated that the treatment regimens used in the study were effective. This study supports the usefulness of r-RNA probes as a diagnostic and therapeutic tool in childhood leprosy.

Adolescent↗