Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children.

Neurology

From the Department of Pediatrics (J.G.), SMS Medical College Jaipur, Rajasthan; Madhukar Rainbow Children's Hospital (S.R.C.), New Delhi; Child Neurology Division (P.J., K.R., B.C., S.G.), Centre of Excellence & Advanced Research on Childhood Neurodevelopmental Disorders, Department of Pediatrics, and Division of Pediatric Endocrinology (V.J.), Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Published: February 2024

Motor neuron diseases are a rare group of neurodegenerative disorders with considerable phenotypic heterogeneity and a multitude of etiologies in the pediatric population. In this study, we report 2 unrelated adolescents (a boy and a girl) who presented with 4-6 years of progressive difficulty in walking, thinning of limbs, and gradually progressive darkening of the skin. Examination revealed generalized hyperpigmentation of skin and features suggestive of motor neuron involvement such as tongue atrophy, wasting of distal extremities, and brisk deep tendon reflexes. On detailed exploration for systemic involvement, history of dysphagia, inability to produce tears, and Addisonian crises were evident. An etiologic diagnosis of Allgrove syndrome, which is characterized by a triad of achalasia, alacrimia, and adrenal insufficiency was considered. Next-generation sequencing revealed pathogenic variants in the gene, confirming the diagnosis. Steroid replacement therapy was initiated along with relevant multidisciplinary referrals. The disease stabilized in the boy and a significant improvement was noted in the girl. These cases highlight the value of non-neurologic cues in navigating the etiologic complexities of motor neuron diseases in children and adolescents. It is imperative for neurologists to develop awareness of the diverse neurologic manifestations associated with Allgrove syndrome because they are often the first to be approached. A multidisciplinary team of experts including neurologists, endocrinologists, gastroenterologists, ophthalmologists, and dermatologists is essential for planning comprehensive care for these patients.

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Source
http://dx.doi.org/10.1212/WNL.0000000000208049DOI Listing

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