Nodules On Iris In Multiple Sclerosis

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The Phakomatoses

The phakomatoses (neurocutaneous diseases) are a group of congenital diseases in which pathological changes are found in both the central nervous system and the skin. Neurofibromatosis, tuberous sclerosis, and von Hippel-Lindau disease are transmitted in an autosomal dominant inheritance pattern with high penetrance and variable phenotypic expression. These disorders are generally characterized by the formation of benign nodules (hamartoma); malignant tumors (e.g., hamartoblastomas) are rare.

■ Neurofibromatosis (NF; von Recklinghausen Disease)

The genetic locus for neurofibromatosis type 1 (NF1), the "classical" form of the disease, is on chromosome 17q11.2; that for NF type 2 (NF2) is on 22q12.2.

Symptoms and signs. The characteristic lesions of NF1 are found in the skin (early stage: cafe-au-lait spots, axillary/inguinal freckling; later stages: neurofibromas/plexiform neurofibromas), eyes (Lisch nodules = whitish hamartomas of the iris, optic glioma), and bone (cysts, pathological fractures, skull defects, scoliosis). There may also be syringomyelia, hydrocephalus, epileptic seizures, precocious puberty, or pheochromocytoma. The hallmark of NF2 is bilateral acoustic neuroma with progressive bilateral hearing loss. Cutaneous manifestations are rare; other nervous system tumors (neurofi-broma, meningioma, schwannoma, glioma) are more common. Subcapsular cataract is a typical feature of NF2 in children. Treatment. Symptomatic tumors are resected.

■ Tuberous Sclerosis (TSC; Bourneville-Pringle Disease)

The clinical syndrome of tuberous sclerosis is produced by a mutation at either one of two known loci (TSC1: 9q34, TSC2: 16p13.3). TSC1 and TSC2 are clinically identical. Symptoms and signs. Epileptic seizures (infantile spasms and salaam seizures = West syndrome; focal, generalized) are found in association with skin changes (early: hypomelanotic linear spots readily visible under UV light; late signs: adenoma sebaceum, subungual angiofibroma, thick and leathery skin in the lumbar region), ocular changes (retinal hamartoma), and tumors (cardiac rhabdomyoma, renal angiomyolipoma, cysts). There may be marked mental retardation and behavioral abnormalities (vocal and motor stereotypy, psychomotor restlessness). CT and MRI reveal periventricular calcification, cortical lesions, and tumors.

Treatment. Symptomatic (anticonvulsants).

Von Hippel-Lindau Disease Gene locus. 3p25-p26.

Symptoms and signs. Cystic cerebellar heman-gioblastoma causes headache, vertigo, and ataxia, and possibly hydrocephalus by compression of the 4th ventricle. Hemangioma may also occur in the spinal cord. Further lesions are often present in the eyes (retinal angiomatosis ^ retinal detachment), kidneys (cysts, carcinoma), adrenal glands (pheochromocytoma), pancreas (multiple cysts), and epididymis (cystadenoma). Treatment. Regular screening of each potentially involved organ system is carried out so that tumors can be resected and vascular complications prevented as early as possible.

■ Cutaneous Angiomatoses with CNS Involvement

Sturge-Weber disease (encephalofacial angiomatosis). A unilateral or bilateral port wine stain (nevus flammeus) is present at birth and may be either localized (characteristically in the upper eyelid and forehead, in which case involvement of the brain is likely) or widespread (entire head or body). Not all cutaneous heman-giomas are accompanied by cerebral involvement.

Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease). Known genetic loci: 9q34.1 (HHT1) and 12q11-14 (HHT2). Telangiectases (vascular anomalies) of the skin, mucous membranes, gastrointestinal tract, urogenital tract, and CNS cause recurrent bleeding (nosebleed, gastrointestinal hemorrhage, hema-turia, hemoptysis, cerebral hemorrhage, anemia). Arteriovenous shunting in the lung may cause cyanosis and polycythemia.

Lisch Nodules

Lisch nodules

Bilateral acoustic neuroma (axial ^-weighted MRI scan)

Lisch nodules

Bilateral acoustic neuroma (axial ^-weighted MRI scan)

Neurofibroma

Periventricular calcification (axial CT scan)

Periventricular calcification (axial CT scan)

Adenoma sebaceum

Hemangioblastoma of the cervical spinal cord

Hemangioblastoma of the cervical spinal cord

Mri Spine Multiple Sclerosis

Tuberous sclerosis

Telangiectasis

Hemangioma of upper eyelid

Ataxia-telangiectasia von Hippel-Lindau syndrome

(sagittal MRI scan)

Sturge-Weber syndrome

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