Adhalin deficiency: an unusual cause of muscular dystrophy.

Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from India.

Spectrum of floppy children in Indian scenario.

OBJECTIVE: To study the clinical profile of paralytic floppy infants undertaking available investigations and detect the frequency of exon7 of survival motor neuron (SMNT) gene deletion among the spinal muscular atrophy (SMA) cases. DESIGN: Descriptive study. SETTING: Tertiary care teaching hospital. SUBJECTS: 70 paralytic floppy infants (40 males/30 females) with age less than 13 years were included in the study. Exclusion criteria included central hypotonia of any cause. Detailed clinical evaluation was done followed by serum creatine phosphokinase levels, electrophysiological studies, muscle biopsy including immunohistochemistry and electron microscopy. Exon7 of SMNT gene deletion studies was done by PCR. RESULTS: Final diagnosis of SMA was assigned to 37 patients followed by congenital myopathy (n = 7), cogenital muscular dystrophy (n = 5), mitochondrial myopathy (n = 4), neuropathies (n = 5) and diaphragmatic SMA (n = 1). Only 15.7% of cases remained unclassified. When EMG was correlated with final diagnosis, it was 80.6% and 75% sensitive and 68.8% and 87.5% specific for neurogenic and muscle disease, respectively. Muscle biopsy revealed neurogenic atrophy in 47.8% cases followed by normal in 37.3% and myopathic pattern in 14.97% cases. Exon7 of SMNT gene was deleted in only 50% of SMA cases. CONCLUSIONS: Spinal muscular atrophy was the commonest cause of floppy children. The low rate of SMNT gene deletion detected needs confirmation with further studies.

Idiopathic pulmonary hemosiderosis.

Two cases of idiopathic pulmonary hemosiderosis in children are reported. Both cases presented with a combination of acute/recurrent respiratory symptoms along with iron deficiency anemia. In one case diagnosis was delayed for 18 months after onset of symptoms. After initial stabilisation with corticosteroid therapy, both cases were put on chloroquine therapy and showed improvement. Various other forms of therapy and outcome are discussed. It is suggested that in cases with recurrent respiratory symptoms, idiopathic pulmonary hemosiderosis should also be considered after excluding infectious etiology.

Status of lipid peroxidation and antioxidant enzymes in hypoxic ischemic encephalopathy.

OBJECTIVE: To compare the activities of key antioxidant enzymes [superoxide dismutase (SOD), glutathione peroxidase (GPx), catalase] and the level of malonyl dialdehyde (MDA) in neonates with hypoxic ischemic encephalopathy (HIE) and controls. DESIGN: Prospective cross sectional study. SETTING: Tertiary care level II neonatal unit of teaching hospital. METHODS: Fifteen term new borns with HIE were registered for the study whereas normal term appropriate for gestational age babies were enrolled as controls. Clinical features were recorded. Activities of SOD, GPx, catalase and the content of MDA were estimated at 24 hours of age. The results obtained were statistically analyzed. RESULTS: Activities of SOD and Catalase and the level of MDA were significantly higher in cases as compared to the controls. There was however no significant alternation in the activity of GPx levels in both the groups. CONCLUSION: The increased activities of antioxidant enzymes are unable to counteract the excessively generated oxidants in vivo, as is evident from the increased MDA levels. Hence, oxygen free radicals may play a significant role in the pathogenesis of HIE.

Lessons learnt from Diarrheal Diseases Control Program and implications for the future.

The national Diarrheal Disease Control Program was launched with the aim of improving the knowledge and practice of appropriate case management among caretakers of young children as well as health care providers. The National Family Health Survey (1992-3) revealed that 42.7% of mothers knew about ORS packets and 25.9% had ever used them. ORS use rates in children who suffered from diarrhea during the previous two weeks varied from 8.3% in Rajasthan to 50.1% in West Bengal. These findings represent substantial accomplishment, and also are a reminder that we still have to reach more than half of the households. Further analysis of the NFHS data showed that exposure to electronic mass media had a significant impact on mothers' awareness about ORS packets (56% in exposed, 32% in unexposed) and ORT use rates (38% in exposed, 25% in unexposed). In this review, future strategies for increasing the impact of the program are discussed. These include involvement of licensed and unlicensed medical practitioners, greater use of the electronic mass media, ORS standardization, greater focus on poorly performing states and resolving residual issues in the case management of diarrhea in malnourished children and infants under 6 months of age.

Role of protozoa as risk factors for persistent diarrhea.

A case control study including 175 children aged 0-36 months suffering from diarrhea of > or = 14 days duration was undertaken to determine whether there is an association between Giardia lamblia, Entamoeba histolytica or Cryptosporidium infection and persistent diarrhea (PD). Subjects were identified by ongoing household surveillance and enrolled as cases. For each case two controls were selected by survey of neighbouring households--a child with acute diarrhea and one without diarrhea. Both the controls were matched with the case for age and nutritional status. Two fresh stool samples were collected from all cases and controls at enrollment and examined for trophozoites of Giardia lamblia, Entamoeba histolytica and Cryptosporidium. Giardia lamblia trophozoites were detected in a significantly higher proportion of PD cases (20.0%) than acute diarrheal and non diarrheal controls (4.6% each, p < 0.0001). There were no significant differences in the proportion of cases and controls who passed E. histolytica trophozoites or cryptosporidium in their stools. There was a consistent trend towards poorer weight gain in PD cases who passed Giardia trophozoites in stool; the differences were statistically significant at days 14 and 21, after enrollment. Giardia lamblia infection is more prevalent in PD cases than in acute diarrhea or non-diarrheal controls. This prevalence is not high enough to warrant routine anti-giardia therapy in patients with PD. However, as giardiasis was observed to have adverse growth impact in PD cases, stool microscopy for detection and subsequent treatment of Giardia lamblia seems to be justified.

Clinical assessment of nutritional status at birth.

OBJECTIVE: Clinical assessment of nutritional status of neonate using CAN score and comparison with other methods of determining intrauterine growth. DESIGN: Cross sectional study. SETTING: Tertiary care hospital. SUBJECTS: 637 consecutive, liveborn singleton neonates with known gestational age and no major congenital malformation. METHODS: Birth weight, length, midarm circumference and head circumference recorded in newborns. Ponderal index and mid arm to head circumference ratio was calculated. Clinical assessment of nutritional status was done on the basis of CAN score and compared with other methods. RESULTS: CAN score < 25 separated 60% of the babies as well nourished and 40% as malnourished. Weight for age and Ponderal Index classified 70-75% of babies as well nourished (AGA) and 25-30% as malnourished. Also MAC/HC classified nearly half the babies as well nourished and half as malnourished. CONCLUSION: CAN score may be a simple clinical index for identifying fetal malnutrition and for prediction of neonatal morbidity associated with it, without the aid of any sophisticated equipments.