Hema Mittal

300,000 IU or 600,000 IU of Oral Vitamin D3 for Treatment of Nutritional Rickets: A Randomized Controlled Trial

ObjectiveTo evaluate the non-inferiority of a lower therapeutic dose (300,000 IU) in comparison to standard dose (600,000) IU of Vitamin D for increasing serum 25(OH) D levels and achieving radiological recovery in nutritional rickets.DesignRandomized, open-labeled, controlled trial.SettingTertiary care hospital.Participants76 children (median age 12 mo) with clinical and radiologically confirmed rickets.InterventionOral vitamin D3 as 300,000 IU (Group 1; n=38) or 600,000 IU (Group 2; n=38) in a single day.Outcome variablesPrimary: Serum 25(OH)D, 12 weeks after administration of vitamin D3; Secondary: Radiological healing and serum parathormone at 12 weeks; and clinical and biochemical adverse effects.ResultsSerum 25(OH)D levels [geometric mean (95% CI)] increased significantly from baseline to 12 weeks after therapy in both the groups [Group 1: 7.58 (5.50–10.44) to 16.06 (12.71–20.29) ng/mL, P<0.001]; Group 2: 6.57 (4.66–9.25) to 17.60 (13.71–22.60, P<0.001]. The adjusted ratio of geometric mean serum 25(OH)D levels at 12 weeks between the groups (taking baseline value as co-variate) was 0.91 (95% CI: 0.65–1.29). Radiological healing occurred in all children by 12 weeks. Both groups demonstrated significant (P<0.05) and comparable fall in the serum parathormone and alkaline phosphatase levels at 12 weeks. Relative change [ratio of geometric mean (95% CI)] in serum PTH and alkaline phosphatase, 12 weeks after therapy, were 0.98 (0.7–1.47) and 0.92 (0.72–1.19), respectively. The serum 25(OH)D levels were deficient (<20 ng/mL) in 63% (38/60) children after 12 weeks of intervention [Group 1: 20/32 (62.5%); Group 2: 18/28 (64.3%)]. No major clinical adverse effects were noticed in any of the children. Hypercalcemia was documented in 2 children at 4 weeks (1 in each Group) and 3 children at 12 weeks (1 in Group 1 and 2 in Group 2). None of the participants had hypercalciuria or hypervitaminosis D.ConclusionA dose of 300,000 IU of vitamin D3 is comparable to 600,000 IU, administered orally, over a single day, for treating rickets in under-five children although there is an unacceptably high risk of hypercalcemia in both groups. None of the regime is effective in normalization of vitamin D status in majority of patients, 3 months after administering the therapeutic dose.

Thyroid Hormone Levels in Children Receiving Carbamazepine or Valproate

Antiepileptic therapy is associated with alteration of thyroid hormone levels. We evaluated the effect of valproate and carbamazepine therapy on the thyroid hormone profile of epileptic children. Subjects included children aged 2-12 years receiving therapy for at least 6 months. Free triiodothyronine, free thyroxine, and thyroid-stimulating hormone were measured by electrochemiluminescent assay in 30 children receiving carbamazepine, 34 children receiving valproate, and 30 age- and sex-matched control subjects. Groups were similar for age, body mass index, and duration of therapy. Thyroid-stimulating hormone (mean ± S.D.) was 2.67 ± 1.66, 4.53 ± 1.9, and 3.61 ± 1.75 μ IU/mL in the control, valproate, and carbamazepine group, respectively (P < 0.001). Free thyroxine was 1.39 ± 0.19, 1.40 ± 0.63, 1.11 ± 0.19 ng/dL (P = 0.009). Free triiodothyronine was 4.03 ± 0.74, 4.14 ± 0.94, 3.92 ± 0.68 pg/mL (P = 0.54). When groups were compared 2 at a time, there was no difference in free triiodothyronine (P > 0.05). Free thyroxine levels in the carbamazepine group were significantly different from valproate (P = 0.015) and control (P = 0.027). Thyroid-stimulating hormone increased with both valproate and carbamazepine compared to control but was significant with valproate (P < 0.001). We conclude that carbamazepine and valproate therapy alters thyroid functions by decreasing free thyroxine levels. Compensation by increase in thyroid-stimulating hormone is better with valproate. The need for monitoring and supplementation should be assessed further.

Clinical profile of children with developmental delay and microcephaly.

Aim: To study the profile of children with developmental delay and microcephaly. Materials and Methods: Children attending child development clinic with developmental delay were evaluated as per protocol. Z scores of head circumference were calculated using WHO charts. Clinical, radiological and etiological profile of those with microcephaly and those without was compared. Results: Of the 414 children with developmental delay 231 had microcephaly (z score ≤ -3). Mean age of children with microcephaly was 35.1 ± 27.9 months (range 4-184), males (72.7%). Comorbidities were epilepsy (42.9%), visual abnormality (26.4%), hearing abnormality (16.9%). Mean DQ was 29.75 + 17.8 in those with microcephaly was significantly lower compared to the rest (P = 0.002). Secondary microcephaly was associated with cerebral palsy in 69.7%. Other causes were congenital infections (4), inborn error of metabolism (3), post-meningoencephalitis (5), malformations (12), and syndromic (13). Neuroimaging was done in 118 (51.1%) cases of which 104 (88.1%) were abnormal. On comparison children with microcephaly had more epilepsy, lower developmental quotient, vision abnormalities findings as compared to normocephalic children with developmental delay (P > 0.05). Conclusion: Microcephaly was associated with lower, DQ, higher comorbidities in children with developmental delay. Spastic CP is commonly associated with microcephaly.

Impact of an Educational Film on Parental Knowledge of Children with Cerebral Palsy

Parents of children with cerebral palsy (CP) must have knowledge about the disease and its management to improve the outcome. This uncontrolled interventional trial was carried out to evaluate the parental knowledge of CP and assess the impact of an educational programme on it. Preset questionnaires were filled before and 1 week after a single session educational programme using an educational film. Out of a total of 53 subjects, majority (75.5%) were from lower socioeconomic status. Initially, none knew the correct name of childs illness; afterwards 45.3% could name it. When compared to previous status, there occurred significant improvement in the knowledge of parents after viewing the film with regard to knowing the cause of CP, knowing that motor involvement was predominant in CP, knowledge regarding curability of the disease, and knowledge about special schooling (P < 0.05). Change in knowledge was not related to socioeconomic or educational status (P > 0.05). Majority (94.3%) found the film useful and 96.2% learned how they could help in the management of their children. Parental knowledge of CP is inadequate which can be improved by incorporating such educational programmes in special clinics to improve management.

Effect of carbamazepine therapy on homocysteine, vitamin B12 and folic acid levels in children with epilepsy

ObjectivesTo compare the levels of homocysteine, vitamin B12 and folic acid before and after 6 months of carbamazepine therapy and to correlate them with carbamazepine level at 6 months.DesignProspective comparative study.SettingTertiary care centre in North India.Participants51 children (2–12 years of age) presenting with motor partial seizures.InterventionCarbamazepine (10–20 mg/μ/day) for 6 months.Main outcome measureChange in serum homocysteine, B12, folic acid level.MethodsFasting venous samples were collected before carbamazepine therapy and after six months. Homocysteine was analyzed using homocysteine enzyme immunoassay. Vitamin B12 and folic acid were estimated using electrochemiluminesence technique. Carbamazepine levels were measured at 6 months.ResultsOf the 51 children, 36 (males-21), were followed up and their data analyzed. Mean homocysteine level was 11.51±3.95 μmol/L at recruitment and 11.77±6.65 μmol/L at six months (P=0.785). At recruitment 6(16%) children had homocysteine level above 15 μmol/L which increased to 10(27%) at 6 months. Mean vitamin B12 at recruitment was 292.1±111.2 pg/mL and 297.8±82.9 pg/mL at 6 months (P=0.764). Mean folic acid at recruitment was 9.98±3.45 ng/mL and 10.66±3.97 ng/mL at 6 months (P=0.358). There was no correlation between carbamazepine levels with homocysteine, vitamin B12 and folic acid (P>0.05). There was no effect of age, sex or dietary pattern on homocysteine levels.ConclusionHence 6 months of carbamazepine therapy did not cause significant change in serum levels of homocysteine, vitamin B12 and folic acid.

Comparative efficacy and safety of intravenous valproate and phenytoin in children.

Intravenous loading is required to reach therapeutic levels of antiepileptic drugs. Valproate, the drug of choice for most epilepsy, may be a better option than phenytoin. In total, 100 children (aged 3-12 years) with motor focal seizures or generalized seizures (second episode) were randomized to receive valproate (20 mg/kg) or phenytoin (20 mg/kg). Patients convulsing at presentation received diazepam. Pulse rate, respiratory rate, blood pressure, oxygen saturation, consciousness, and recurrence of seizures were monitored. The primary outcome measure was control of seizures for 24 hours. Secondary outcome measures comprised variations in cardiorespiratory parameters. The primary endpoint efficacy was 93% and 97%, respectively, in the two groups (P = 0.345). Sixteen children in the valproate group and 17 in the phenytoin group received diazepam, with time to cessation of seizures at 25.44 ± 10.34 and 24.76 ± 12.60 seconds, respectively (P = 0.90). The percentages of children with drug levels in therapeutic range at 4 hours and 24 hours were comparable (P > 0.05). Among children unconscious at presentation, time to regain consciousness was 58.33 ± 28.50 minutes in the valproate only group, and 135.00 ± 62.10 minutes in the phenytoin only group (P = 0.010). Changes in cardiorespiratory parameters were not significantly different (P > 0.05). Hence intravenous valproate is safe and efficacious, with less time to regain consciousness. Valproate can be included in treatment protocols for acute seizures.

Disseminated bacillus calmette guerin disease in a twin infant with severe combined immunodeficiency disease.

Fatal-disseminated Bacillus Calmette Guerin (BCG) disease is well known in infants with severe combined immunodeficiency after BCG vaccination. We report a 7 month male infant delivered as a product of in vitro fertilization and twin gestation that presented with fever, cough and multiple nodular skin lesions. A biopsy of skin lesions revealed the presence of acid fast bacilli. Mycobacterium bovis infection was confirmed by polymerase chain reaction (PCR) and molecular studies. Immunological profile confirmed the diagnosis of severe combined immunodeficiency. Only few reports of similar case exist in the literature.

Phacomatosis pigmentovascularis type 2b (phacomatosis cesioflammea) with double superior vena cava, abdominal varicosities, and natal tooth: Novel associations

Phacomatosis pigmentovascularis is characterized by coexistent extensive cutaneous vascular (capillary) and pigmentary anomalies. We describe a 2‐month‐old infant presenting with classic features of phacomatosis pigmentovascularis 2b (phacomatosis cesioflammea). He was also found to have hitherto unreported associations in the form of extensive venous anomalies presenting as striking abdominal wall varicosities and persistent left superior vena cava and natal tooth.

Megaloblastic Anemia—A Rare Cause

A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B12, folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia.