Neurocutaneous melanosis with hydrocephalus and syringomyelia

Abstract

The authors report the investigation, treatment, and progress of a unique case of neurocutaneous melanosis with syringomyelia. The suspected etiology, the pathology, and the variable clinical manifestations of this rare phakomatosis are recounted. The potential for malignant change and the possible mechanisms of syrinx development in this syndrome are discussed.

Neurocutaneous Melanosis Associated with Dandy-Walker Malformation

“…CNS involvement commonly manifests as increased intracranial pressure, seizures and infrequently cranial nerve palsies. Bowel and bladder dysfunction may also be present in the later stages of the disease [1, 4, 6, 7, 35]. The neurological manifestations are usually progressive and eventually fatal.…”

“…The associated developmental malformations of the central nervous system (CNS), especially the Dandy-Walker complex, arachnoid cysts and occult spinal dysraphism, are not infrequent events with this rare entity [1, 2, 3, 4, 5]. The common neurological manifestations are irritability, lethargy, nausea and vomiting, neck stiffness, bulged fontanel, papilledema and cranial nerve palsies as the signs and symptoms of increased intracranial pressure [1, 4, 6, 7]. Once the neurological symptoms manifest, the course is usually progressive and fatal.…”

Primary melanocytic neoplasms of the central nervous system

“…Clinical deterioration is rapid if malignant transformation occurs. [9][10][11][12][13][14][15] DLM has a known association with neurocutaneous melanosis (NCM), neurofibromatosis-1, Sturge-Weber syndrome and DandyWalker syndrome. [16][17][18][19][20][21][22][23] NCM is a rare, non-hereditary phakomatosis characterised by multiple or large congenital cutaneous naevi in conjunction with melanocytic tumours of the CNS.…”

“…Neuroimaging CT demonstrates melanocytic neoplasms as iso-to hyperdense lesions with homogenous contrast enhancement with or without abnormal calcification. 3,4,9,11,17,[32][33][34][35] The paramagnetic properties of melanin give melanocytic neoplasms of the CNS their characteristic appearance on MRI. 2,9,45 They are typically hyperintense on T1-weighted images, hypointense on T2-weighted images, hyperintense on fluid-attenuated inversion recovery (FLAIR) images and enhance homogeneously with gadolinium 17,33,34,46-49 (see Illustrative case 2).…”

Neurocutaneous melanosis associated with Hirschsprung's disease in a male neonate

“…Neurocutaneous melanosis is a rare congenital syndrome characterized by proliferation of melanin-producing cells in both the skin and leptomeninges [1,2]. Patients with this syndrome have large, multiple, pigmented skin nevi in combination with an excess of melanotic cells in the leptomeninges.…”