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 mainly due to parental consanguinity.
Based on the clinical findings. Diagnosing Multicore Myopathy requires a muscle biopsy.
Characterized by a congenital, nonprogressive myopathy secondary to (histologically and electron microscopically verified) ☞Multicore Myopathy. Severe mental retardation, radiologic evidence of hypoplastic pituitary fossa with hypogonadotropic hypogonadism (small penis and undescended testes in the boy), and generalized hypotrichosis were present. Musculoskeletal anomalies included short stature, delayed bone maturation, osteopenia, lumbar hyperlordosis, limited joint mobility (particularly of the big joints, eg, shoulders, elbows, hips, knees, ankles), bilateral clinodactyly, and evidence of mild, but generalized muscle weakness (noted as “floppy from birth” and “feeding difficulties”). Truncal, hip girdle, and mild proximal muscle weakness of the upper limbs, a shuffling, spastic, wide-based gait, and a Gower’s-like phenomenon upon arising from a sitting position on the floor were described. Facial anomalies included mild microcephaly, thickening of the calvaria, enlarged frontal sinuses, hypertelorism, blepharoptosis, downslanting of the palpebral fissures, strabismus, myopia, limited eye movements (up- and downward gaze), prominent nasal bridge, high-arched palate, and bilateral facial muscle weakness. Muscle biopsies reveal a high degree of variation in fiber size and occasionally show fiber splitting. The multicores consist of numerous circumscribed, small areas of disorganized myofibrillar structures with 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 the ones found in ☞Central Core Disease and hence are also referred to as “minicores.” Electron microscopic examination reveals myofilament disruptions and/or total disorganization of the filaments, associated with derangement and fragmentation or streaming of the Z-bands.
Precautions before anesthesia
Despite the facial anomalies, airway management is not expected to be difficult (however, still needs to be assessed). A thorough cardiac evaluation (including electrocardiogram and echocardiography) is recommended because Multicore Myopathy has been linked to cardiomyopathy in some cases. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.
If difficult airway management is expected, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to ...