As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were studied in addition to special reference to growth and renal function. The diagnostic findings included congenital cataracts, neurologic involvement (cognitive impairment, areflexia, and a history of infantile hypotonia), and renal tubular dysfunction in male patients with typical facies (deep set eyes and frontal bossing). Patients ranged in age from four months to 31 years. Muscle involvement was indicated by an elevation of serum creatine kinase concentration in conjunction with substantial concentrations of MB isoenzymes, elevated aspartate aminotransferase and lactate dehydrogenase in the setting of normal liver function. One-third of the patients had plasma free carnitine concentration below 20 mcmol/L, a concentration associated with depletion of carnitine in tissues. Linear growth decreased after one year of age and head circumferences, normal in the first three to four years of life, then fell to the third percentile in mid-childhood. Longevity was reduced because of renal disease and the oldest patient examined was 33 years. [1]

COMMENT. The oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder, is a rare cause of neonatal hypotonia or the limp infant syndrome. Both muscle and central abnormalities may contribute to the hypotonia and areflexia.