An extremely rare, inherited disorder characterized by
multicore myopathy, musculoskeletal, endocrinological, and facial anomalies,
hypogonadism, and mental retardation.
Multicore Myopathy with Mental Retardation, Short
Stature, and Hypogonadotropic Hypogonadism; Chudley Syndrome II.
This disorder has been described
in only two siblings (a boy and a girl) of consanguineous parents. Autosomal
recessive transmission has been suggested.
Characterized by a congenital, nonprogressive
myopathy secondary to (proved histologically and electron microscopically)
Multicore myopathy, severe mental retardation, radiologic evidence of
pituitary gland hypoplasia with short stature, hypogonadotropic
hypogonadism, and generalized hypotrichosis. Musculoskeletal anomalies may
include delayed bone maturation, osteopenia, lumbar hyperlordosis, limited
joint mobility (particularly of the big joints, e.g., shoulders, elbows, hips, knees,
ankles), clinodactyly, and evidence of mild but generalized muscle weakness.
Facial anomalies may include microcephaly, thickening of the skull,
hemifacial microsomia, enlarged frontal sinuses, microtia, atretic ear
canal, hypertelorism, blepharoptosis, myopia, limited sagittal eye
movements, high arched palate, and facial muscle weakness. Muscle biopsies
reveal a high degree of variation in fiber size and occasionally fiber
splitting. The multicores consist of numerous circumscribed, small areas of
disorganization of the myofibrillar structure and decreased oxidative enzyme
activity secondary to a lack of mitochondria. The long axis of the lesion is
perpendicular or parallel to the long axis of the muscle fiber. These cores
are usually smaller than central cores. For this reason they are also called
Thorough cardiac evaluation (including
electrocardiogram and echocardiography) is recommended because multicore
myopathy has been linked to cardiomyopathy in some cases. Similar to
central core disease, malignant hyperthermia-triggering agents should be
avoided in these patients. One case of unexplained fever and death has been
described in an infant boy with multicore myopathy a few hours following
cardiac catheterization with meperidine, hydroxyzine, and intravenous
ketamine. Titrate neuromuscular blockers under peripheral nerve stimulator
control or avoid them at all if possible. Succinylcholine is best avoided
because it may trigger rhabdomyolysis, hyperkalemia, or even a malignant
hyperthermia crisis. Sedative and/or anxiolytic premedication and/or the
presence of the primary caregiver during induction of anesthesia may be
beneficial in patients with mental retardation.
Central Core Disease: A congenital myopathy with a specific histologic
pattern and high susceptibility to malignant hyperthermia.
Multicore Myopathy: A congenital muscular disease with nonprogressive muscle
weakness. Cardiac involvement with congestive, restrictive or hypertropic cardiomyopathy has been described.
Chudley AE, Rozdilsky B, Houston CS, et al: Multicore disease in sibs
with severe mental retardation, short stature, facial anomalies, hypoplasia
of the pituitary fossa, and hypogonadotropic hypogonadism. Am J Med Genet