Hercules Baby - A Rare Case Presentation of Congenital Myopathy

Authors : Dr. Kumari Rishika; Dr. Vamsi Raj; Dr. Sonal Ghule

Volume/Issue : Volume 8 - 2023, Issue 2 - February

Google Scholar : https://bit.ly/3IIfn9N

Scribd : https://bit.ly/3YV0MQX

DOI : https://doi.org/10.5281/zenodo.7625444

Congenital myopathies are a heterogeneous group of congenital neuromuscular disorders. Most of these disorders have subcellular abnormalities that can be only demonstrated by muscle biopsy and by means of histochemistry, immunocytochemistry and electron microscopy A genetic etiology is demonstrated in many of the congenital myopathies and molecular genetic testing from blood sample may confirm the diagnosis without muscle biopsy. These disorders have varied clinical presentation like dysphagia, respiratory insufficiency, cardiac insufficiency, global developmental delay. Here we report a case of a one month old male child ,born out of non- consanguineous marriage who presented with microcephaly, difficulty in feeding, difficulty in swallowing, respiratory distress, cyanosis and hypertrophy of all skeletal muscles including deltoid, biceps, triceps, gastrocnemius, hamstrings, adductors, muscles of abdomen sent was very high 2800IU/L.CT Brain done s/o diffuse cerebral hypodensity s/o ischemic changes .child was on ventilatory support so EMG and NCV could not be done. Whole exam sequencing sent s/o TPM3 heterozygous gene mutation which has been proven to play a very important role in muscle development and an important risk factor for development of congenital myopathies, hence a diagnosis of Congenital myopathies secondary to TPM3 tropomyosin gene mutation was made.

Keywords : Congenital Myopathy, Hypotonia, Developmental Delay.


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29 - February - 2024

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