A CASE SERIES ON VARIED CLINICAL PRESENTATION IN LEIGHS SYNDROME IN A TERTIARY CARE HOSPITAL

Abstract

Background:Leigh syndrome (LS) is a hereditary neurometabolic disease, also known as subacute necrotizing encephalomyelopathy, and was described by the British neuropathologist and psychiatrist Denis Leigh in 1951. It is a neurodegenerative disease with variable symptoms that occurs due to a mitochondrial dysfunction caused by a hereditary genetic defect, associated with bilateral central nervous system lesions. Although it is a rare disease, with an approximate incidence of 1: 40,000 live births, it is the most frequent mitochondrial disease in the first year of life. Clinical Scenario: Case 1 Baby Nikshitha, a 6-and-a-half-month old female child born to a multigravida mother in a non-consanguineous marriage with previous 2 abortions and 1 intrauterine death. The baby was born through LSCS (oligohydramnios) and cried immediately at birth with a weight of 2.5kgs with uneventful antenatal periods.Excessive Vomiting x 1 month, increased over 5 days, Inability to gain weight over the past 3 months, Abnormal Posturing - 2 days prior to admission Mri Brain: Symmetric areas of altered intensity in bilateral caudate nucleus relatively sparing Globus pallidi showing diffusion restriction. Clinical Scenario: Case 2 Baby of suhasini, a 3 months old female child born to a primi mother in a non-consanguineous marriage with previous 1 sibling death. The baby was born through NVD and cried immediately at birth with a weight of 2.5kgs with uneventful antenatal periods.Child presented to the hospital at 3months of life with the chief complaints of - FEVER x 4 days, Noisy breathing since 4 days, Abnormal Posturing – since yesterday nightInitial Septic workup to rule out meningitis – NORMAL. ABG done in view of failure to thrive with recurrent vomiting – Metabolic Acidosis.Mri Brain: Symmetric areas of altered intensity in bilateral caudate nucleus relatively sparing Globus pallidi showing diffusion restriction. No blooming to suggest haemorrhage or calcification. Myelination is consistent with age Clinical Scenario: Case 3 Shobhakumari, 2Y old female child born to a multigravida mother in a non-consanguineous marriage with h/o sibling death at 5 years of age (leighs disease). The baby was born through NVD and cried immediately at birth with a weight of 2.5kgs with uneventful antenatal periods.Child presented to the hospital at 2 years with the chief complaints of - Excessive Vomiting since 6daysInability to gain weight over the past 3 months MRI brain :T2/Flair hyperintense signal with restricted diffusion in deep grey matter of b/l cerebellar hemisphere and periaqueductal grey matter of midbrain caudate nucleus and putamen Clinical Scenario: Case 4 B/o Afreen 4 year male born to a primi mother through normal vaginal delivery in a non-consanguineousmarriage with birth weight of 2.7 kg . Child presented to a hospital with History of regression of milestones and rhythmic repetitive movement of upper limb since 15 months of age. Serum lactate was high and MRI brain showed symmetrical B/l T2/FLAIR caudate and putamen nucleus hyperintensity with restriction on DW1 images Discussion:Several studies showed significant heterogeneity in the clinical findings of Leigh syndrome. Sofou K et al., revealed in a study that 69% of the cases presented before 2 years of age, while three patients presented with ataxia or seizures at 8,10 and 21 years of age. Conclusion:The diagnosis of Leighs disease should be considered in appropriate clinical and laboratory settings whenever symmetrical hypo densities are encountered in the putamen and midbrain on.