Patterson pseudoleprechaunism syndrome.
Incidence
Extremely rare.Etiology unknown. Seems to have autosomal dominant inheritance.
Clinical Characteristics
These patients have normal birth weight (rather than the usual severe intrauterine growth retardation as seen in leprechaunism) and marked cutis gyrata of hands and feet as well as a generalized skeletal disorder. Follow-up of this patient (Patterson, 1969), then a grotesque 7-year-old, made it clear that the disorder is distinct from leprechaunism. The boy also had hyperadrenocorticism and diabetes mellitus. He developed bladder diverticula and died at age 7.5 years from gram-negative sepsis. A main finding at autopsy was marked enlargement of the adrenals, especially of the zona fasciculate. Very frequent signs include kiphosis, long/large ear, cortical anomaly, delayed bone age, increased body hair, metaphyseal anomaly, autosomal dominant inheritance, increased skin pigmentation diffuse, mental retardation (moderate/severe), hypothalamic-hypophysis axis anomalies. These signs were seen less frequently: abnormal rib, pelvis anomaly, hyperelastic skin, precocious puberty, dense/thikened skull, seizures ( any type), clavicle absent/abnormal, cortico-adrenal hyerplasia, hyperglycemia/diabetes mellitus.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
It is a clinical diagnosis. Endocrine problems. Hyperglycemia/diabetes mellitus (Frequent sign).