Chudley-Rozdilsky-Houston Syndrome

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 minicores.

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.