Abstract

Menkes disease is a neurodegenerative metabolic disorder. It is an X-lined recessive disorder of copper metabolism. It is characterized by seizures, developmental delay with loss of achieved milestones, along with skin and hair changes. We present such a genetically proven case of Menkes disease in a 17-month-old boy with seizures, cyanosis, and dyspnea. On evaluation, the child had low serum copper and ceruloplasmin. Magnetic resonance imaging revealed diffuse atrophy of the cerebrum, cerebellum with tortuosity of intracranial vessels. Autopsy confirmed the imaging findings along with dense gliosis, myelin loss, and significant loss of neurons in the cortex. Cerebellum showed aberrant dendritic arborization, somal sprouts, and axonal torpedoes within the Purkinje neurons. This report illustrates the classical presentation of in a genetically proven case of Menkes disease at autopsy, which has not been described in the recent literature.


Author Details

Authors

• Balamurugan Thirunavukkarasu¹
• Kirti Gupta¹
• Ridhi Sood¹
• Neha Saharan¹
• Azhar Navid²
• Chaithanya Reddy²
• Jitendra Kumar Sahu²

Departments

• Departments of
• ¹ Histopathology and
• ² Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Address

Dr. Kirti Gupta, MD, Professor
Department of Histopathology
Postgraduate Institute of Medical Education and Research (PGIMER)
Chandigarh, India
Email: kirtigupta10@
yahoo.co.in

Citation