Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature
A 9-year-old boy born out of non-consanguineous marriage presented with complaints of difficulty in walking and seizures of 1 year duration. He had swaying on either side suggestive of gait ataxia with jerky movements involving the trunk and limbs suggestive of action myoclonus. He also developed episodes of generalized tonic clonic seizures. Seizure frequency increased and they were poorly controlled with antiepileptic drugs. Child was symptomatic for various other neurological problems, however, they were left unattended. He had normal social and language development initially with slight delay in achieving motor milestones. However, parents noticed significant deterioration in his speech, behavior, and cognition since the age of 2½ years. He became socially withdrawn. He also had progressive vision loss noticed since the age of 5 years. Later on he used to bump into objects and people while walking. Vision loss progressed so much that he could hardly do any activities without assistance, however, he could respond to sounds. There was no history of any other cranial nerve palsy or motor weakness. There was no history of birth asphyxia, preterm delivery or any perinatal insult. Child was vaccinated. Family history was not significant.\nOn examination, his vitals were stable. General examination didn’t reveal any abnormalities. There were no neurocutaneous markers. Child was socially withdrawn and had some stereotypic movements involving both upper limbs. Vision loss could not be objectively tested, however, he didn’t fixate gaze on any objects placed in front of him and could not appreciate torch light. Fundus was suggestive of pigmentary retinopathy with peripheral intraretinal bone spicules. Vessels were attenuated with optic disc pallor. Pupils were normal in size and were reacting to light. Pendular nystagmus was present. Other cranial nerve examination was normal. Tone and power was normal in all the four limbs. Reflexes were brisk and release signs in the form of palmomental, grasp, snout, pout reflex were present. Gait was ataxic and there was action myoclonus predominantly involving the trunk and lower limbs. Detailed sensory examination could not be done, however, he winced in response to pin prick. Cardiac and respiratory system examination was normal. There was no organomegaly on abdominal system examination.\nChild had neuroregression in the form of deterioration in speech and cognition, behavioral changes, vision loss with pigmentary retinal changes and development of new features in the form of gait ataxia, action myoclonus, and generalized tonic clonic seizures. This led to a strong suspicion of NCL: The late infantile variety. Other possibilities considered were inborn errors of metabolism like congenital defects of glycosylation, leukodystrophy and mitochondrial cytopathies. Patient was investigated accordingly.\nComplete hemogram, biochemical parameters like renal, liver, serum electrolytes, thyroid functions, plasma lactate were within normal limits. His electroencephalogram (EEG) revealed generalized 1-1.5 Hz sharp and slow wave discharges with background slowing []. Pseudoperiodic discharges were visualized. Visual evoked potential (VEP) study didn’t show any recordable waveforms. Nerve conduction study was normal. Magnetic resonance imaging of the brain revealed age inappropriate diffuse cerebral and cerebellar atrophy. However, the cerebellar atrophy was marked and out of proportion to the cerebral atrophy []. T2 weighted sequence revealed diffuse white matter hyperintensity in the periventricular area and centrum semi ovale []. Axillary skin biopsy revealed eosinophilic rounded bodies identified in the eccrine glands located close to the basement membrane []. Periodic acid Schiff (PAS) staining revealed PAS positive bodies seen in eccrine glands []. Patient received Tab Leviteracetam 250 mg twice a day (BD) along with supportive care. His seizure frequency has reduced. Otherwise the course is progressive.