An interesting case of Leigh-like syndrome
Our patient is a 12-year-old female child born of third degree consanguinous parentage with history of delay in development of motor milestones. She had recurrent falls preceded by tripping of toes since she started walking and unsteadiness, especially in the dark. The child had persistent vomiting since 1 year of age immediately after taking food. There was one episode of generalised tonic clonic convulsions at 2 years of age and gradual decline in scholastic performance for the past 1 year. She developed worsening of unsteadiness with swaying to either side following a febrile illness 4 months back, which improved with treatment. For the past 1 month, she again developed worsening of preexisting symptoms along with development of dysphagia, nasal regurgitation and slurring of speech. There was no history of similar complaints in other family members.\nGeneral examination revealed pallor, bilateral pes cavus and clawing of toes. Higher mental function examination demonstrated predominantly frontal and parietal lobar dysfunction in the form of poor attention, perseveration, defective alternative sequencing, left sensory extinction, right left disorientation, bilateral astereognosis, impairment of calculation and constructional skills. Language was fluent, with normal comprehension and repetition. Reading and writing was severely impaired. Speech was dysarthritic involving labial, lingual and guttural components. She had bilateral optic atrophy with LMN VII, IX, X, XII cranial nerve involvement. There was generalized hypotonia with predominantly distal wasting and weakness. All deep tendon reflexes were absent, with plantar showing no response. Position and vibration sense was impaired distally and signs of cerebellar dysfunction were present bilaterally. Intermittent choreoathetotic movements involving both foot were also present.