Juvenile Cobalamin Deficiency in a 17-Year-Old Child With Autonomic Dysfunction and Skin Changes

Siddiqui, Adeel; Ansari, Aamir; Beech, Cameron; Shah, Nidhi; Tanner, Stephan M.; Sarnaik, Sharada A.

doi:10.1097/mph.0b013e31822817bb

Cited by 2 publications

(1 citation statement)

References 12 publications

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“…Vitamin B1 (thiamine) and B12 (cobalamin) deficiency causes autonomic dysfunctions; these dysfunctions are frequently asymptomatic . However, autonomic symptoms, especially gastrointestinal dysmotility, become predominant in some patients . Alcoholic neuropathy might be caused by the direct toxicity of ethanol or its metabolites, as well as nutritional deficiencies .…”

Section: Differential Diagnosismentioning

confidence: 99%

Wide range of clinicopathological features in immune‐mediated autonomic neuropathies

Koike

Sobue

2013

Clinical & Exp Neuroim

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Autonomic neuropathies can occur primarily or secondarily to various underlying diseases. The clinical features of autonomic neuropathies vary with the severity and the modality of autonomic dysfunctions, the degree of somatic involvement, the presence or absence of anti-ganglionic acetylcholine receptor antibody and the extent of unmyelinated fiber loss. Primary autonomic neuropathies, which usually affect both cholinergic and adrenergic functions, are divided into autoimmune autonomic ganglionopathy, acute autonomic and sensory neuropathy, and acute autonomic sensory and motor neuropathy based on the concomitance or absence of sensory or motor dysfunctions (although the nosological relationship of acute autonomic sensory and motor neuropathy to Guillain-Barr e syndrome should be carefully considered). The monophasic clinical course and frequent presence of a history of antecedent infections suggests that immune mechanisms participate in these neuropathies. The discovery of the anti-ganglionic acetylcholine receptor antibody significantly expanded the spectrum of autonomic neuropathies, especially autoimmune autonomic ganglionopathy, to include cases with chronic progression mimicking pure autonomic failure. Patients with primary autonomic neuropathies might manifest restricted forms of autonomic dysfunctions, such as cholinergic dysautonomia, postural orthostatic tachycardia syndrome, chronic intestinal pseudo-obstruction or acquired idiopathic generalized anhidrosis. Some immunological diseases, such as paraneoplastic syndrome, connective tissue diseases and celiac disease, might also cause diverse autonomic neuropathies. As many nonimmunological diseases are known to cause various types of autonomic dysfunctions, excluding such diseases is important for the diagnosis of immune-mediated autonomic neuropathies. (Clin Exp Neuroimmunol

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Section: Differential Diagnosismentioning

confidence: 99%

Wide range of clinicopathological features in immune‐mediated autonomic neuropathies

Koike

Sobue

2013

Clinical & Exp Neuroim

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Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Kingma,

Neven,

Bael

et al. 2023

Orphanet J Rare Dis

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Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.

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Juvenile Cobalamin Deficiency in a 17-Year-Old Child With Autonomic Dysfunction and Skin Changes

Cited by 2 publications

References 12 publications

Wide range of clinicopathological features in immune‐mediated autonomic neuropathies

Wide range of clinicopathological features in immune‐mediated autonomic neuropathies

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

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