Severe hydrocephalus in a child with congenital myotonic dystrophy X A young patient with congenital myotonic dystrophy, or Steinert's disease, presented at the age of 4.5 months with an increase of his head circumference and signs of intracranial hypertension. The results of the radiological exams reveal a major hydrocephalus. The patient condition evolved favourably after ventriculoperitoneal bypass. While ventriculomegaly is common in congenital myotonic dystrophy, hydrocephalus with signs of intracranial hypertension is rare, hence the need of regular monitoring of head circumference.
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Andes Pediatr
October 2024
Departamento de Neuropediatría, Hospital Fundación Alcorcón, Madrid, España.
Unlabelled: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist.
Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion.
Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
January 2025
Andhra Medical College, Vishakapatnam, Andhra Pradesh, India.
Front Vet Sci
November 2024
Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, São Paulo State University (Unesp), Botucatu, SP, Brazil.
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation.
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