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Hypophosphatemic rickets is one of the major causes of refractory rickets exhibiting genetic heterogeneity. Most cases are X-linked due to PHEX gene mutations. However recently, autosomal dominant (AD) forms have been described, due to mutations in FGF23. The authors present a 13-year-old girl who had hypophosphatemic rickets due to R179W mutation in FGF23 gene, being the first case in India with this mutation. She presented with bone pains, short stature and osteopenic bones, symptoms appearing after onset of menarche. This presentation is different from that seen in younger children with rickets. Burosumab, an anti-FGF23 antibody is an effective novel therapy for FGF23-related rickets but it is not available in India. High doses of calcitriol and phosphate were required to alleviate the symptoms and signs. The authors aim to alert pediatricians to keep in mind this treatable disorder to prevent diagnostic delays and improve treatment outcome.

After a review of the current health scene in India, the authors suggest that the Government of India should consider seriously, the introduction of new born screening. As a first step, a central advisory committee should be constituted to recommend what is required to be done to strengthen the infrastructure and the manpower to carry out new born screening, and the disorders to be screened. In the urban hospitals newborn screening (NBS) for three disorders can be easily introduced (congenital hypothyroidism, congenital adrenal hyperplasia and G-6-PD deficiency), while in the rural areas this should begin with congenital hypothyroidism, especially in the sub Himalayan areas. Concurrently, logistic issues regarding diets and special therapies for inborn errors of metabolism should be sorted out, laboratories to confirm the diagnosis should be set up, and a cadre of metabolic physicians should be build up to treat those identified to have inborn errors of metabolism. Once these are established on a firm footing, tandem mass spectrometry should be introduced as it allows the identification of a number of disorders in an affordable manner. The recent improvements and current trends in health care in India have created the necessary infrastructure for adopting NBS for the benefit of infants in India.

To resolve all indeterminate cases on HPLC screening with the help of family studies and to further confirm the results by genetic analysis.In our 11 years experience with HPLC at Sir Ganga Ram Hospital, we solved many cases with the help of family studies on parental blood samples in which patient could have possibly been homozygous vs compound heterozygous. Genetic analysis was done on index case as well as on parental samples with ARMS-PCR technique to confirm the results.In 100% of cases, we noted that the diagnosis obtained by family studies was commensurate with that obtained by DNA analysis.In centers, which do not have the facility for genetic analysis, family studies by HPLC can be equally useful.

A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.

The last decade has seen remarkable advances in sequencing the human genes. There are more genes expressed in the brain than any other organ. The knowledge regarding the genome has led to tremendous progress in molecular characterization of the genes responsible for neurological disorders. The present review covers the molecular diagnosis of Duchenne muscular dystrophy, spinal muscular atrophy, and fragile X syndrome. These are three neurologic disorders common in India for which facilities of molecular diagnosis are currently available in the country. As a result of funding by the Department of Biotechnology of the Government of India, a number of molecular diagnostic centers are being established. It is hoped that molecular diagnosis of many more neurological disorders will soon become available in India.

Clinical features of 15 reported cases and one in the present study are critically analysed for evolving diagnostic criteria for leprechaunism. A tetrad of features is suggested for diagnosing this syndrome.

Of 12,716 consecutive briths, over a period of eleven years, perinatal mortality rate was 80.7, still birth rate 41.4 and early neonatal death rate 39.3. Perinatal mortality was very high in association with previous pregnancy wastages, obstetrical complications like toxemia and antepartum hemorrhage, acute infection and chronic illnesses during pregnancy, abnormal presentation, prolonged sedation and anesthesia. Teenage and elderly mothers, primi and grandmultipara, mothers with anemia and A or O blood group and consangunity also had high perinatal losses. Alcoholism and smoking tend to have adverse effects on fetus but require further studies to be conclusive. A low perinatal mortality rate of 29/1000 in properly booked cases is another highlight of this study.

The results of the 1981 census of India are briefly reviewed. Some implications concerning the literacy program population policy and the health program are discussed. (ANNOTATION)

The prevalence of DM is about 0.4/1000 children with a lower incidence in the rural areas. Children comprise 3-5% of the total diabetics. A study of 55 pediatric cases of DM (1980-84) showed that only 22 (40%) had ketoacidosis on admission. Ten (18.2%) had onset of illness before 4 years of age. HLA antigen studies in childhood IDDM have shown a positive linkage disequilibrium with Bw21 (RR-12.7), and DR3 (RR = 16.6). Prevalence of islet cell antibodies (ICA) was 30.9% (n = 110) as compared with 0.8% in controls. Antibodies against Coxsackie B2 virus were increased (75.5% vs 46.4% in controls). The C-peptide content was substantially low. Malnutrition related DM occurs in adolescents in some parts of India. It is characterized by moderate hyperglycemia, low serum glycerol, relative insulin insensitivity, and pancreatic malformation/calcification in about 1/4 of subjects. There is no association with HLA antigens or ICA, and the precise etiology is unclear. Mortality was 3.6% in patients admitted in our hospital but is higher in other regions due to poverty and relative lack of health care facilities.

A prospective study over a 13 month period was carried out to determine the spectrum of respiratory distress syndrome (RDS) In the newborn. Of 1400 neonates, 116 developed RDS of which 67 were term and 49 preterm. The cases were categorised on the basis of clinical data and course, biochemical, radiologic and autopsy findings. Maximum number of cases (51.4%) were due to pneumonia and bronchopneumonia. Hyaline membrane disease was responsible for respiratory distress in 10 cases (86%). All infants were preterm with a negative shake test and all expired. Transient tachypnea was observed in 22 cases (19%), all of term gestation. Meconium aspiration was responsible in 14 cases (12.1%) and was commoner in term infants than preterm. Pneumothorax was seen in 2 cases.

An analysis of pediatric attendances at Dyalpur Health Centre in Haryana, was undertaken covering a period of 15 months. It was found that the pediatric group constituted 44.1% of the total attendances. The ten leading causes of morbidity were upper respiratory tract infections, gastroenteritis, superficial infections of the skin, pyrexia of unknown origin, ulcers and injury, otitis media, anaemia, lower respiratory tract infection, pain in the abdomen, and scabies. Morbidity was lowest during the 1st month of life, rising thereafter until the 1st year, showing a fall in the 1–2 year age group and subsequently a gradual rise. There was no significant difference in the sex ratio in various diseases. The generally recognised seasonal pattern is noted. Comparison is made with other similar studies in rural and urban areas and the differences discussed. It is recommended that analysis of the out-patients’ attendance should be undertaken in more health centres, so that the leading 10 to 12 causes are known. A plan should then be formulated to deal with these most expeditiously and economically to save the doctor from the deluge of curative work and leave him time to attend to the preventive aspects. Only then can the objectives outlined by the health and planning committees of the Government of India 1944, 1959, and 1961 be realised.

Two cases of adrenogenital syndrome are presented. Case 1 was a 2-month-old female infant with the salt-losing form of C21-hydroxy-lase deficiency. She died after three bouts of generalised sepsis. Postmortem was performed. Case 2 was a 5-year old girl with the nonsaltlosing from of C21/hydroxylase deficiency. The problems in diagnosis and treatment are discussed.

The ease, simplicity and inexpensiveness of dermatoglyphic analysis and the relative constancy of findings within a given disorder have assurred dermatoglyphics a place in clinical medicine. The methods of study, the mean frequency of patterns among the Indian population and abnormal dermatoglyphics in various disorders are briefly discussed.

Since the demonstration of the lymphocyte as a mediator of delayed hypersensitivity our understanding of this immune response has advanced tremendously. It is now recognised that the lymphocyte acts as the sensitized cell and the macrophage as the indicator cell. The following mechanism for delayed hypersensitivity has been suggested. Antigen→macrophage super antigen→lymphoblast→sensitized lymphocyte→migration inhibitory factor→macrophage. The anergy to tuberculin testing in active tuberculosis and other states is better understood. It is believed that in active tuberculosis there is an inhibitory factor in the serum. The recognition of thein vitro correlates of delayed hypersensitivity has provided yet another method of detecting this immune response. It is more sensitive than the dermal tests. It is hoped that this will prove useful in the diagnosis and management of tuberculosis, a disease where hypersensitivity plays a large part in the pathological process.

A four-month old infant presented with intractable convulsions which responded dramatically to intravenous injection of 25% glucose. A diagnosis of idiopathic hypoglycemia of infancy was subsequently established. The patient expired after an 8-hour-period of fasting although the previous day he had remained asymptomatic after a 12-hour fast. Extreme caution in the investigation of such cases is urged.

A child with transient hypogammglobulinemia is described. The possible etiological factors are discussed in the light of known causes.

A ten-year-old boy presenting with lymphadenopathy and hepatomegaly was found to have hemosiderosis on a lymphnode biopsy. Investigations revealed that he had ingested excessive amounts of iron leading to hemosiderosis. Other causative factors were excluded. After omission of further iron ingestion, the child improved.