1.
Implications of Manganese in Chronic Acquired Hepatocerebral Degeneration.
Rajoriya, N, Brahmania, M, J Feld, J
Annals of hepatology. 2019;(1):274-278
Abstract
Neurological symptoms can be one of the over-riding symptoms in patients with liver cirrhosis. Patients can present with subtle changes in mood or neurological function due to hepatic encephalopathy (HE), to more severe presentations including stupor and coma. While HE, in its severe form, can be clinically easy to diagnose, more subtle forms may be more difficult to recognize. Other neurological diseases may indeed be overlooked in the context of cirrhosis or confuse the physician regarding the diagnosis. Chronic acquired hepatocerebral degeneration (CAHD) is an uncommon problem occurring in patients with cirrhosis characterised by a Parkinsonian-like neurological presentation with damage to the brain secondary to manganese (Mn) deposition. Here we describe a case of a patient with a neurological presentation of liver disease with a review of the current CAHD literature. In conclusion, CAHD is a rare condition occurring in liver cirrhosis that should always be considered in patients with neurological manifestations of chronic liver disease.
2.
A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism.
Tavasoli, A, Arjmandi Rafsanjani, K, Hemmati, S, Mojbafan, M, Zarei, E, Hosseini, S
BMC pediatrics. 2019;(1):229
Abstract
BACKGROUND Manganese is a critical trace element that not only has antioxidant properties, but also is essential for various metabolic pathways and neurotransmitters production. However, it can be toxic at high levels, particularly in the central nervous system. Manganese intoxication can be acquired, but an inherited form due to autosomal-recessive mutations in the SLC30A10 gene encoding a Mn transporter protein has also been reported recently. These mutations are associated with significant failure of manganese excretion and its storage in the liver, brain (especially basal ganglia), and other peripheral tissues, resulting in toxicity. CASE PRESENTATION A 10-year-old boy from consanguineous parents presented with a history of progressive truncal instability, gait difficulty, and frequent falls for 2 months. He had dystonia, rigidity, ataxia, dysarthria, bradykinesia and a plethoric skin. Investigations showed polycythemia, low serum iron and ferritin levels, and increased total iron binding capacity. A brain MRI revealed symmetric hyperintensities in the basal ganglia and dentate nucleuses on TI images that were suggestive of brain metal deposition together with clinical manifestations. Serum calcium and copper levels were normal, while the manganese level was significantly higher than normal values. There was no history of environmental overexposure to manganese. Genetic testing showed a homozygous missense mutation in SLC30A10 (c.C1006T, p.His336Tyr) and Sanger sequencing confirmed a homozygous state in the proband and a heterozygous state in the parents. Regular treatment with monthly infusions of disodium calcium edetate and oral iron compounds resulted in decreased serum manganese and hemoglobin levels to normal values, significant resolution of MRI lesions, and partial improvement of neurological symptoms during 6 months of follow-up. CONCLUSION The syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by SLC30A10 mutation is a treatable inherited metal deposition syndrome. The patient may only have pure neurological without hepatic manifestations. Although this is a rare and potentially fatal inborn error of metabolism, early diagnosis and continuous chelation therapy might improve the symptoms and prevent disease progression.
3.
[A case of idiopathic portal hypertension (IPH) with hypermanganemia presenting as spastic gait].
Obama, R, Tachikawa, H, Yoshii, F, Takeoka, T, Shinohara, Y
Rinsho shinkeigaku = Clinical neurology. 2002;(9):885-8
Abstract
A 48-year-old women was admitted to our hospital because of gradually developed spastic gait. She showed spasticity of the lower extremities with mild weakness. Laboratory tests disclosed decreased WBC and platelet counts and mild increases of transaminase and total bilirubin. Blood manganese level was markedly increased (6.0 micrograms/dl). Abdominal ultrasound showed splenomegaly, and abdominal angiography showed a dilatation of the portal and paraumbilical veins. T1-weighted MR images showed high signal intensities at the bilateral globus pallidus and cerebral peducles, and T2-weighted images showed high signal intensities at the bilateral deep white matter, posterior limbs of the internal capsule and right upper cervical spinal cord. Following the diagnosis of IPH, splenectomy was performed. The blood level of manganese decreased thereafter and her neurological deficits gradually improved. Hepatic diseases often show high signal intensities at the basal ganglia on T1-weighted images, and this seemed to be due to accumulation of manganese in our case. Because demyelination or axonal injury of the spinal cord are found in hepatic disease, we speculate that the high signal intensities at the spinal cord on T2-weighted images of our case reflect hepatic myelopathy, which may also be caused by high blood levels of manganese.
4.
[Chronic hepatic encephalopathy: the role of high serum manganese levels and its relation with basal ganglia lesions in nuclear magnetic resonance of the brain. Clinical case].
Miranda, M, Caballero, L
Revista medica de Chile. 2001;(9):1051-5
Abstract
Chronic hepatic encephalopathy (CHE) is a disabling complication of chronic liver failure and porto-systemic shunt. The pathogenesis of CHE remains unclear but increased levels of ammonia are a basic feature. Several clinical and experimental observations support a role for manganese (Mn) in the pathogenesis of this disorder. Increased blood levels of Mn have been described in patients with CHE and this could lead to its accumulation on the basal ganglia and characteristic hyperintensities of basal ganglia as seen on magnetic resonance imaging (MRI) of the brain. We report on the clinical features and characteristic radiologic findings of a patient who presented with the neurologic syndrome of CHE and who had very high blood levels of Mn in the absence of an occupational exposure to this metal. Our report supports the hypothesis that Mn has a role in the pathogenesis of CHE and also suggests that brain MRI is a useful marker of the brain metabolic repercussion due to CHE.
5.
[A case of welder presenting with parkinsonism after chronic manganese exposure].
Sato, K, Ueyama, H, Arakawa, R, Kumamoto, T, Tsuda, T
Rinsho shinkeigaku = Clinical neurology. 2000;(11):1110-5
Abstract
A 56-year-old welder working for 30 years developed postural instability and writing clumsiness since October, 1998. Neurologic findings revealed dystonia of the bilateral shoulders and distal four limbs as well as parkinsonism such as masked face, bradykinesia, rigidity, and retropulsion. Brain MRI showed hyperintensity lesions on T1-weighted images in the bilateral globus pallidus, midbrain, pontine tegmentum, dentate nucleus and cerebral white matter, which reduced in size and density after ten months. The diagnosis of manganese poisoning was made by the high manganese levels of both serum and urine, and by the marked elevated urinary manganese level after administration of the cheleting agent. We pointed out the diagnostic significance of brain MRI in patients with chronic manganese exposure.