Abstract
A 34-year-old Chinese Han female complaining of general muscle weakness and wasting for 9 years. She was admitted for aggravation of her symptoms caused by respiratory distress. She also suffered from bulbar palsy. She had no hearing loss, visual problems, or cerebellar signs. Her parents had a consanguineous marriage, though there was no family history of these symptoms. Pure tone audiometric findings demonstrated no definite abnormality. Electromyography demonstrated neurogenic damage. Brain magnetic resonance imaging revealed cerebellar atrophy, dominantly in anterior lobe. Gene sequencing of whole gene exomes was negative. She was finally diagnosed with Madras motor neuron disease (MMND), a rare subtype of motor neuron disease. No definite therapy was available for MMND, and she died of respiratory tract infection 1 year later. Previous studies have shown that cerebellar signs are positive in 17.2% patients of MMND, but no case with cerebellar atrophy has been reported before. Thus, here we describe cerebellar atrophy as a new clinical feature of MMND.
Highlights
Madras motor neuron disease (MMND) was first described by Meenakshisundaram et al (1970) in Madras in southern India
The consanguineous parents suggested that it might be an inherited disorder, though exome investigations were normal. Her condition was special in the involvement of the facial nerve, which is rare in MND
Madras motor neuron disease is a special type of MND, constituting 0.9%–3.7% of all patients with MND (GourieDevi and Suresh, 1988; Saha et al, 1997)
Summary
Madras motor neuron disease (MMND) was first described by Meenakshisundaram et al (1970) in Madras in southern India. Fasciculation of the facial muscles was detected She had generalized and symmetrical muscular atrophy, involving the face, trunk, and limbs (Figures 1C,D). Clinical signs and symptoms and EMG suggested damage to the pyramidal tract, anterior horn cells, and bulbar nuclei Her history and laboratory findings excluded intoxication, metabolism disorders, vascular diseases, trauma, tumors, and autoimmune diseases. Inherited disorder, though exome investigations were normal Her condition was special in the involvement of the facial nerve, which is rare in MND. The final diagnosis of MMND, with complications of pneumonia, respiratory failure (type 2), and malnutrition, was made We treated her with intravenous immunoglobulin (IVIG) (0.4 g/kg once daily for 5 days) and other symptomatic treatment (e.g., oxygen inhalation, intravenous levofloxacin, and nutritional support). We got her husband’s inform consent for reporting this case
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