Year : 2020 | Volume
: 23 | Issue : 3 | Page : 248-
Vitamin responsive movement disorders in children
Director, James Parkinson's Movement Disorder Research Centre, Kannur Medical College, Kerala, India
Dr. Sujith Ovallath
James Parkinson's Movement Disorder Research Centre, Kannur Medical College, Kerala
|How to cite this article:|
Ovallath S. Vitamin responsive movement disorders in children.Ann Indian Acad Neurol 2020;23:248-248
|How to cite this URL:|
Ovallath S. Vitamin responsive movement disorders in children. Ann Indian Acad Neurol [serial online] 2020 [cited 2020 Aug 8 ];23:248-248
Available from: http://www.annalsofian.org/text.asp?2020/23/3/248/284062
When it comes to Movement Disorders resulting from metabolic and genetic diseases, the most frequent question that arises is whether the condition is curable? If not, the next question asked would be whether the condition can be effectively treated?
The review on “Vitamin responsive Movement Disorders in Children” addresses the readily treatable Movement Disorders in children, and needless to say requires special perusal by every clinician dealing with such disorders.
Important ones among them include infantile tremor syndrome wherein infants with characteristic cry, generalized tremulousness, and hyperpigmentation present with developmental regression after the age of 6 months. Early diagnosis and Vitamin B12 supplementation often reverse the condition.
Biotin thiamin responsive basal ganglia disease often gets noticed following an infection or stress; it typically presents with intermittent subacute encephalopathy, movement disorders, cognitive deficits, and seizures. In addition, palsies affecting nerves to the head and neck cause deficits in facial expression, eye movement, mastication, and swallowing. MRI of an acute episode demonstrates severe vasogenic edema, and follow-up imaging shows atrophy, necrosis, and gliosis of basal ganglia regions. Abnormal signal intensity signifying loss or impairment of nervous tissue is classically observed within the head of the caudate with complete or partial involvement of the putamen. Lifelong supplementation of biotin and thiamin is warranted in such cases.
Abetalipoproteinemia was first described by Bassen–Kornzweig and is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy, and acanthocytosis. Supplementation of fat-soluble vitamins arrests neurological and retinal degeneration.
Vitamin E responsive ataxia should never be missed as in almost all other ataxias, the physicians do not have much to offer to the patient. It is an autosomal recessive condition associated with a defect in the α-tocopherol transfer protein. Clinically, it manifests as progressive ataxia with a phenotype resembling that of Friedreich's ataxia.
A combination of ataxia, dystonia, and spasticity in children needs exclusion of treatable conditions like deficiency of cobalamin, cerebral folate, and coenzyme Q10.
Pyruvate dehydrogenase complex (PDC) deficiency presents as lactic acidosis in children due to impairment in glucose metabolism and can have severe consequences on brain development. Treatment options typically include supplementing cofactors carnitine, thiamine, and lipoic acid. A medication called dichloroacetate is under trial for PDC deficiency. A diet that is high in fats and low in carbohydrates can help prevent lactic acidosis but typically does not stop neurological symptoms.
Many a time there is a tendency among clinicians to sideline those patients with metabolic or genetic disorders coming to their clinic as “the nontreatable” group. Therefore, identifying the rare treatable entities among the vast majority without any treatment often becomes a challenging, but an essential skill which every clinician should master. Early identification of such disorders often helps to prevent permanent brain damage.