LAUSR

The patient showed rapid improvement in her activities of daily living and communication. She regained the ability to feed independently and, following physiotherapy, could walk with aid. She maintained well for two months. However, after repeated bouts of UTI, she displayed similar symptoms of developmental regression and had multiple focal seizures. Serology revealed leucopenia (TLC = 3200/cu.mm), methylmalonic acidemia (64.4mol/L), hyperhmocysteinemia (171μmol/L), and elevated lactate levels (42 mg/dL). Megaloblastic anemia was also found, with Hb = 5.2gm/dL and macrocytic erythrocytes with hypersegmented neutrophils on peripheral smear. Repeat MRI brain revealed diffuse cerebral atrophy and bilateral diffusion restriction in the caudate and putamen, with Magnetic Resonance Angiography (MRA) Brain revealing thrombosis of the left transverse and sigmoid sinus, and left internal jugular vein. She was managed symptomatically for MMA and epilepsy, after which she had reduced frequency of seizures, attained neck support, and could sit for a while. loss of hand function. She lost bowel and bladder control and was unable to feed without assistance. Consequently, she was forced to discontinue play school. On presentation, her vocabulary was disyllabic, and she could stand only with support. She displayed repetitive self-injurious behavior, lacked reciprocal communication, and had minimal eye contact. On physical examination, head circumference was 45 cm (<0.1 percentile value for age), indicative of microcephaly. Both lower limbs showed spasticity and exaggerated deep tendon reflexes. There was no evidence of scoliosis or breathing difficulties. qEEG revealed multifocal spike and wave complexes interspersed with pseudo-periodic quiescence, suggestive of impending encephalopathy. MRI brain showed bilateral symmetrical T2 Flair signal changes in the external capsule and perisylvian region. Applied behavioral analysis, IQ assessment, and evaluation of communication revealed profound impairment in socio-adaptive functioning and moderate autism. Alternative and augmentative communication skills, skills training, and occupational therapy were imparted. Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?