CLINICAL AND NEUROIMAGING CORRELATES OF LEIGH SYNDROME , A CASE SERIES AND REVIEW OF LITERATURE

Leigh syndrome, also referred to as Sub acute necrotising encephalopathy usually presents with symptoms like developmental delay, regression of neurological skills and sudden death. Approximately 25% of the patients are abnormal at birth with features like hypotonia, lactic acidosis, feeding problems, hypoglycemia, hyperbilirubinemia, cardiac complications, seizures and/or hyperammonemia. Here, we present 6 cases of Leigh's disease , who presented within 6 months of life with neurological regression and hypotonia as the predominent manifestations with MRI ndings showing Bilateral symmetrical hyperintensities in T2 weighted images which are characteristic ndings in Leigh's disease.

Influenza B associated acute necrotising encephalopathy with visual impairment in a child

Influenza-associated encephalopathy/encephalitis (IAE) can result in serious neurological complications. We report a 4-year-old healthy female child with the diagnosis of IAE. Her clinical course was complicated by temporary visual impairment and significant motor deficits. Her unique ophthalmological findings have little precedent in previous literature.

Neuro-ophthalmological consequences of acute influenza A encephalitis in a genetically predisposed child

Acute necrotising encephalopathy (ANE) is a rare disease that corresponds to a rapidly progressive encephalopathy induced by a viral infection. It is frequently associated with a mutation on the RAN-binding protein 2 (RANBP2) gene–ANE1. We present a case of a 5-year-old boy with a clinical picture of influenza aggravated to an acute encephalopathy picture after the 3rd day. Complementary examinations came back positive for the influenza A virus, and MRI showed aspects compatible with ANE. He was treated accordingly with subsequent improvement of the clinical picture. During ambulatory follow-up, a mutation was detected on the RANBP2 gene and, at the ophthalmological level, bilateral peripheral constriction on the campimetry and a significant reduction of bilateral peripapillary retinal nerve fibre layer was reported. Our case contributes to the enrichment of the neuro-ophthalmological literature and expands the spectrum of sequelae of this rare entity in the Caucasian population.

Influenza A-associated acute necrotising encephalopathy in a 10-year-old child

We report an otherwise healthy 10-year-old boy who was brought to the emergency department with altered mental status, vomiting, diarrhoea and fever (39.5°C), without signs of meningitis. The CT scan revealed bilateral hypodensities of the thalamus and cerebellum, with diffuse oedema and slight compression of the brainstem and a triventricular hydrocephalus. Lumbar puncture and blood examination revealed markedly elevated protein level of 2.4 g/L in cerebrospinal fluid and high serum aminotransferase, characteristic of acute necrotising encephalopathy (ANE). The PCR of the nasopharyngeal swab was influenza A positive. Because of signs of high intracranial pressure, mannitol was given, an external ventricular drain was placed and subsequently, a posterior fossa craniectomy was performed. Postoperatively, he showed signs of cerebellar mutism with emotional instability and diminished speech. Six months after presentation, he showed full recovery. This case illustrates ANE as a rare complication of influenza A infection.