Oculocerebral with Hypopigmentation Syndrome

At a glance

Extremely rare inherited disorder that may be apparent at birth (congenital) or during early infancy. It is characterized by hypopigmentation of the skin, silvery-gray hair, and abnormalities of the central nervous system that affect the eyes (microphthalmia) and the oculocerebral functional areas as well as spasticity, mental and physical retardation.

Synonyms

Cross Syndrome; Kramer Syndrome; Depigmentation-Gingival Fibromatosis-Microphthalmia Syndrome.

Incidence

Fewer than 20 cases have been reported in the medical literature.

Genetic inheritance

Autosomal recessive genetic trait. Affects males and females equally. Most of the observed cases occurred within families.

Pathophysiology

Mutation mapped to 3q27.1q29, potential genes affected include PARL, OPA1, and DVL3, which are involved in brain, sensorineural anomalies as well as skin and hair pigmentation.

Clinical aspects

Abnormally small eyes, lack of skin, and characteristic hair color is usually congenital and, therefore, apparent at birth. The skin is usually very light and may be extremely sensitive to exposure to the sun. The hair is often silvery or silvery-gray at birth. In addition, infants may be abnormally sensitive to light (photosensitivity). Later during infancy, neurologic abnormalities (eg, athetoid movements, ataxia, movement of the head beyond the normal range of motion [hyperextension], and increased muscle rigidity or spasticity) may become apparent after age 3 months. In more severe cases, children may experience lack of voluntary movements of the arms and legs (spastic tetraplegia). Other neurologic symptoms may include exaggerated reflexes and/or joint immobility. The legs, arms, shoulders, and hips are most often involved. Affected individuals may have a high-pitched cry or make constant sucking sounds. Patients may exhibit mental retardation and growth retardation, and psychomotor development is often delayed (eg, holding up the head, sitting, walking). Infants may present severe microphthalmia (unilateral or bilateral) associated with microcornea. The presence of corneal opacity, glaucoma, and horizontal nystagmus can be noted. Ectropion palpebral conjunctivae, cataracts, and optic nerve atrophy have been reported. Such eye abnormalities may result in varying degrees of visual impairment or blindness. Some affected infants exhibit gingival fibromatosis when the first teeth emerge at age 6 months to 3 years. Other symptoms (eg, developmental delays, mental retardation) may become apparent later during infancy or childhood.

Anesthetic considerations

No specific anesthetic considerations or implications with this syndrome, except in the presence of open glaucoma.

Other conditions to be considered

• ☞Chediak-Higashi Syndrome: Rare inherited disorder characterized by oculocutaneous albinism, visual difficulties, and immune system deficiencies. The hair is typically blond or light brown with a silvery tint. Affected infants may exhibit photosensitivity, nystagmus, and ataxia. It is inherited as an autosomal recessive genetic trait.

• ☞Hermansky-Pudlak Syndrome: Rare inherited disorder characterized ...