Abstract Malonic aciduria, caused by malonyl-CoA decarboxylase ( MLYCD ) deficiency, is a rare disorder of mitochondrial fatty-acid metabolism. Although the disease usually presents in infancy with cardiomyopathy and metabolic disturbances, late-onset forms with predominant neurological manifestations have been increasingly recognized. We report a 17-year-old girl initially diagnosed with juvenile myoclonic epilepsy who presented with absence seizures, myoclonic jerks, tremor, and prominent motor tics. Electroencephalography (EEG) demonstrated generalized 3–4 Hz spike–wave discharges with photic sensitivity. Metabolic investigations revealed elevated malonylcarnitine and urinary malonic acid levels. Whole-exome sequencing identified a homozygous MLYCD c.1310C>T (p.Ala437Val) variant, confirming the diagnosis of malonic aciduria. Treatment with levocarnitine, dietary modification, and lamotrigine resulted in complete clinical recovery and normalization of EEG findings within 1 year. This case highlights that metabolic disorders such as malonic aciduria may mimic idiopathic generalized epilepsy and should be considered in patients with atypical clinical features.
Abstract Purpose: Sialorrhea is one of the most common complications in children with cerebral palsy (CP), with an incidence rate of up to 10%–58% among CP children. Glycopyrrolate has multiple anticholinergic adverse effects in the long term, while ultrasound (USG)-guided Botulinum toxin type-A (BoNT-A) injection can prove to be an effective alternative. But there is no comparative data on their efficacy. So, our purpose was to assess the comparative efficacy of the two approaches for managing sialorrhea. Materials and Methods: A single-center, open-label, randomized controlled trial was conducted over 18 months to assess improvement in sialorrhea after USG-guided BoNT-A injection to salivary glands and oral Glycopyrrolate therapy. A total of 44 CP patients were selected (22 in each group), between 4 and 12 years with Drooling severity scale (DSS) ≥3 and Drooling frequency scale (DFS) ≥3. USG-guided BoNT-A injection was given for Group-A and oral Glycopyrrolate for Group-B. Assessment was done at baseline, 2, 4, and 12 weeks post-procedure. A total of 38 patients (19 in each group) were analyzed after 6 dropouts (3 from each group). Results: A similar reduction in both DSS and DFS was seen, from baseline (Group-A DSS 3.89 ± 0.66 and DFS 3.21 ± 0.42, Group-B DSS 3.95 ± 0.71 and DFS 3.42 ± 0.51) to 4 weeks in both groups, but at 12 weeks, statistically greater reduction ( P > 0.05) in both mean DSS and DFS for Group-A compared with Group-B. Complications were also less for Group-A compared with the others. Conclusion: USG-guided BoNT-A injection and oral Glycopyrrolate were equally effective in controlling sialorrhea at the initial stage, till 4 weeks, whereas BoNT-A showed statistically more improvement at the later stage of the study.
Abstract Isolated post-traumatic intraventricular hemorrhage (IVH) without associated intracranial injuries is extremely rare in older infants. We report the case of a 9-month-old child who presented with vomiting, abnormal limb movements, and altered sensorium following a fall from bed. Computed tomography of the brain revealed isolated IVH involving the lateral, third, and fourth ventricles, without additional hemorrhages or skull fracture. The child was managed conservatively with antiepileptics and anti-edema measures. Follow-up imaging after 72 h showed partial resolution of IVH without hydrocephalus, and the patient recovered fully. This case underscores the importance of timely recognition, close monitoring, and tailored management of isolated traumatic IVH in infants.
