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
Abstract :
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.
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.
