A 20 years old third-year MBBS female student from Dow Medical College in 2008 presented to the Neurology Dept. in Karachi with a short history of rapidly worsening bilateral lower limb weakness for 6 months. There was facial dysmorphism. Motor neuron disease was the suspicion; EMG/NCS study revealed non inflammatory myopathic process involving all limb muscles; Centro nuclear myopathy (CNM) was diagnosed via muscle biopsy. CNM is a group of congenital myopathies, where cell nuclei are abnormally located in skeletal muscle cells. Craniofacial dysmorphism is characterized by abnormal development of facial and skull structures. To the best of the author's knowledge, this is the first case report from Pakistan, though few cases have been published in the international literature
"The Constellation of Centronuclear Myopathy and Craniofacial Dysmorphism,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 16:
4, Article 7.
Available at: https://ecommons.aku.edu/pjns/vol16/iss4/7