Clinical Case Reports

Biography

Biography: Pratibha Singhi

Abstract

Hypermangenesemia with hepatic cirrhosis, polycythemia and juvenile-onset dystonia has been recently described as an autosomal recessive disorder of primary manganese metabolism due to the mutated manganese transporter SLC30A10. As compared to the full blown and well characterized extrapyramidal syndrome of acquired manganism; less is known about the clinical presentation and disease course of inherited hypermanganesemia. We describe the characteristic clinical and radiological presentation of primary hypermangenesemia due to homozygous mutation in SLC30A10 gene on chromosome 1 in a young girl. A 6 year old girl presented with progressive toe walking and abnormal, intermittent, twisting body postures for the past 3 months. These movements were episodic, painful, non stereotypic, non rhythmic and involuntary involving both the trunk and limbs and lasting for 3-5 minutes. Laboratory investigations revealed elevated hemoglobin 195-214 g/L, packed cell volume 55.9%, alanine transaminase 142 IU, aspartate transaminase 91 IU and unconjugated bilirubin 23 mmol/l (normal<18). Plasma copper and zinc levels were normal. Markers for chronic infective, autoimmune and metabolic liver disease were negative. Whole blood manganese level was 2366 (normal <320 nmol/l). Ultrasound abdomen revealed hepatomegaly with normal echotexture. Magnetic resonance imaging of brain showed symmetrical, bilateral hyper intense signal in the caudate and lentiform nuclei and cerebellar white matter in the T1 sequence consistent with manganese deposition. She was treated with calcium disodium edentate chelation therapy and iron supplementation. Characteristic clinical and MRI features aid the diagnosis of primary hypermanganesemia Genetic testing is warranted in all individuals with hypermanganesemia and polycythemia with variable neurological or hepatic manifestations once environmental exposure has been excluded.