Mystery Case: Neurocutaneous melanosis with diffuse leptomeningeal malignant melanoma in an adult

Bhatia, Rohit; Kataria, Vijay; Vibha, Deepti; Kakkar, Aanchal; Prasad, Kameshwar; Mathur, Sandeep; Garg, Ajay; Bakhshi, Sameer

doi:10.1212/wnl.0000000000002396

Cited by 9 publications

(4 citation statements)

References 11 publications

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“…Radiotherapy and chemotherapy have been offered in severe disease but with limited benefit. The overall prognosis is poor in diffuse leptomeningeal involvement, with less than 3 years survival [ 3 , 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

Persistent Intracranial Hypertension and Severe Hypoglycorrhachia in an Adult With Giant Congenital Melanocytic Naevi

Kong,

Abdul Halim

2023

Cureus

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A 29-year-old female, with giant congenital melanocytic naevi (GCMN) presented with a-year history of symptoms and signs of intracranial hypertension. Investigations revealed raised cerebrospinal fluid (CSF) pressure and severe hypoglycorrhachia (low CSF glucose) without pleocytosis. Initial contrast-enhanced brain MRI was normal, but a repeat MRI after a year showed meningeal enhancement with mild communicating hydrocephalus. The raised intracranial pressure was treated with a lumbar-peritoneal shunt. Intraoperative CSF cytology revealed an abundance of squamous epithelia and degenerative cells, but no malignant cells. Her symptoms recovered with CSF diversion via shunt placement, but the hypoglycorrhachia remained. This case highlights the rare occurrence of a non-inflammatory cause of both intracranial hypertension and severe hypoglycorrhachia in a GCMN adult patient, with progressive radiological changes over time, consistent with a diagnosis of neurocutaneous melanosis.

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Section: Discussionmentioning

confidence: 99%

Persistent Intracranial Hypertension and Severe Hypoglycorrhachia in an Adult With Giant Congenital Melanocytic Naevi

Kong,

Abdul Halim

2023

Cureus

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“…Three patients received postoperative chemotherapy, 2 received postoperative radiotherapy plus chemotherapy, and 2 received chemotherapy without surgery; 4 did not receive treatment. Among those receiving chemotherapy, 5 patients were treated with temozolomide[ 5 - 9 ], 1 patient received combined immunochemotherapy[ 10 ], and 1 patient received adjuvant chemotherapy with fotemustine[ 11 ]. According to the pathological results, 9 cases of meningeal melanoma, 5 cases of meningeal melanomatosis, 2 cases of meningeal melanocytoma, 3 cases of meningeal melanocytosis, and 3 cases of unknown pathology were diagnosed (Figure 3 ).…”

Section: Discussionmentioning

confidence: 99%

“…According to previous reports, patients with NCM generally develop neurological symptoms at an early age, and most of them die within 3 years after the onset of symptoms. Adult NCM is very rare[ 5 ]. The vast majority of patients with NCM are sporadic cases, with few familial cases being reported.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with NCM usually have neurological symptoms at an early age. Most patients have a poor prognosis once symptoms occur, regardless of whether the CNS tumors are benign or malignant; in most cases, the disease is fatal within 3 years of onset[ 5 ]. Primary malignant melanoma in the central nervous system is usually a single solid mass, and melanoma with large cystic changes is extremely rare.…”

Section: Introductionmentioning

confidence: 99%

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Neurocutaneous melanosis with an intracranial cystic-solid meningeal melanoma in an adult: A case report and review of literature

Liu¹,

Wang²,

Liu³

et al. 2022

WJCC

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BACKGROUND Neurocutaneous melanosis (NCM) is a rare congenital, nonhereditary neurocutaneous syndrome that mainly occurs in children; adult NCM is very rare. Due to its rarity, the clinical features and treatment strategies for NCM remain unclear. The purpose of this study was to explore the clinical features, diagnosis, treatment and prognosis of NCM in adults. Most intracranial meningeal melanomas are solid masses, and cystic-solid malignant melanomas are very rare. Due to the lack of data, the cause of cystic changes and the effect on prognosis are unknown. CASE SUMMARY A 41-year-old woman was admitted to the hospital with intermittent headache for 1 mo. Magnetic resonance imaging (MRI) showed a 4.7 cm × 3.6 cm cystic-solid mass in the left temporal lobe with peritumoral edema. The entire mass was removed, and postoperative pathology indicated malignant melanoma. CONCLUSION MRI is the first-choice imaging approach for diagnosing central nervous system diseases in NCM patients, although cerebrospinal fluid may also be used. At present, there is no optimal treatment plan; gross total resection combined with BRAF inhibitors and MEK inhibitors might be the most beneficial treatment.

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NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called “forme fruste” of neurocutaneous melanosis

et al. 2018

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Primary melanocytic tumors of central nervous system represent rare tumors arising from melanocytes of the leptomeninges. These neoplasms include focal forms like melanocytoma and primary malignant melanoma and diffuse forms like leptomeningeal melanocytosis and primary leptomeningeal melanomatosis. The clinical diagnosis remains challenging, with clinical and radiologic features overlapping with other more common diseases. Here we present a case of a 38 years old male with primary diffuse leptomeningeal melanomatosis with presence of a NRAS mutation without features of neurocutaneous melanosis.

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Mystery Case: Neurocutaneous melanosis with diffuse leptomeningeal malignant melanoma in an adult

Cited by 9 publications

References 11 publications

Persistent Intracranial Hypertension and Severe Hypoglycorrhachia in an Adult With Giant Congenital Melanocytic Naevi

Persistent Intracranial Hypertension and Severe Hypoglycorrhachia in an Adult With Giant Congenital Melanocytic Naevi

Neurocutaneous melanosis with an intracranial cystic-solid meningeal melanoma in an adult: A case report and review of literature

NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called “forme fruste” of neurocutaneous melanosis

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