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Year : 2018  |  Volume : 51  |  Issue : 3  |  Page : 118-121

Adult-onset neurocutaneous melanosis with Dandy–Walker malformation

Department of Neurosurgery, Chang Gung University, Chang Gung Memorial Hospital, Taoyuan, Taiwan

Date of Submission22-Jun-2017
Date of Decision09-Sep-2017
Date of Acceptance16-Nov-2017
Date of Web Publication21-Jun-2018

Correspondence Address:
Dr. Po-Hsun Tu
Department of Neurosurgery, Chang Gung Memorial Hospital, 5, Fu-Shing Street, 333 Kweishan, Taoyuan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/fjs.fjs_108_17

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Neurocutaneous melanosis (NCM) is characterized by diffuse or focal proliferation of melanin-producing cells over the skin or leptomeninges. Even without malignant transformation, the prognosis is poor after symptomatic progression of NCM, resulting from either mass effect in central nervous system or hydrocephalus. We reported a 26-year-old female patient with rapid deterioration after the onset of NCM. Despite no solid tumor formation, elevated cerebrospinal fluid protein content, which complicated shunting procedure, associated with hydrocephalus played the key role in clinical deterioration. Adult onset of NCM with Dandy–Walker malformation was never reported in our literature review. Diagnosis and treatment for such disease entity are discussed.

Keywords: Dandy–Walker malformation, neurocutaneous melanosis, prognosis, shunt

How to cite this article:
Chang TW, Hsieh PC, Liu ZH, Tu PH. Adult-onset neurocutaneous melanosis with Dandy–Walker malformation. Formos J Surg 2018;51:118-21

How to cite this URL:
Chang TW, Hsieh PC, Liu ZH, Tu PH. Adult-onset neurocutaneous melanosis with Dandy–Walker malformation. Formos J Surg [serial online] 2018 [cited 2022 Sep 25];51:118-21. Available from: https://www.e-fjs.org/text.asp?2018/51/3/118/234873

  Introduction Top

In patients with neurocutaneous melanosis (NCM), the focal or diffuse proliferation of melanin-producing cells in both skin and leptomeninges were observed and were partly related to further intracranial pathologic process including hydrocephalus and mass effect.[1] Cutaneous manifestations, such as giant congenital melanocytic nevi, are not necessarily found in all patients with NCM.[1],[2] Although with well-documented clinical scenarios, the diagnosis of NCM is sometimes complicated by the presentation, especially those with rare locations.[2] The authors report a case of adult-onset NCM with Dandy–Walker malformation (DWM), which was never reported in our review.

  Case Report Top

A 26-year-old female patient, a mother with two healthy children, presented with sudden onset generalized seizure. The seizure episode lasted a few minutes before she regained her consciousness spontaneously. Progressive drowsiness and unsteady gait developed after the seizure attack. Traceback her history, dizziness, headache, incoherent speech, and bizarre behavior were noted in the recent months. She had no known clinically significant medical history. Multiple nevi over the trunk and limbs were found during physical examination [Figure 1], which she claimed no progression of the nevi since childhood. Neurological examinations of all cranial nerves were normal except mild right central type facial palsy. Laboratory study revealed normal blood cell counts, renal and liver function test, and electrolytes. Brain computed tomography (CT) was performed at the emergency department and revealed a small left frontal intracerebral hemorrhage and a large posterior fossa cystic lesion.
Figure 1: Multiple huge nevi over the trunk and limbs since birth

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After admission to eurology ward, serial examinations were arranged. Cerebral angiography revealed no definite abnormal finding. Brain magnetic resonance imaging (MRI) demonstrated a small left frontal parenchymal lesion, measured 1.8 cm × 1.6 cm × 1.1 cm, presenting as mixed iso-to hyperintensity on T1-weighted imaging and T2-weighted imaging, with patchy contrast enhancement. Diffuse leptomeningeal enhancement was also noted. Besides, DWM was diagnosed due to the typical image finding of a large extraaxial cystic lesion in the posterior fossa, hypoplasia of the left cerebellar hemisphere, and tonsil [Figure 2]. The posterior fossa cyst and prominent fourth ventricle caused the mild mass effect on the cerebellum and brain stem. Electrophysiological study showed diffuse cortical dysfunction without epileptic activity. Through lumbar puncture, cerebrospinal fluid (CSF) study showed high-protein level (550.1 mg/dL), atypical cells, lymphocytes, and suspicious melanocytes. Skin biopsy showed scar and residual groups of melanocytic nevus cells in the dermis. She refused surgical intervention and was discharged several days later with clear consciousness after glycerol treatment and no further seizure observed during the hospital stay.
Figure 2: Brain magnetic-resonance imaging revealed the left frontal lesion with heterogeneous hyperintensity on T1-weighted imaging (a) with patchy enhancement (b), huge posterior fossa cyst, prominent fourth ventricle (c), and diffuse leptomeningeal enhancement (c and d). Bilateral lateral ventricle and third ventricle remained normal appearance

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Two weeks after discharge, the patient came to our emergency department again due to persisting headache, nausea, and vomiting. Brain CT scan showed enlarged size of both posterior fossa cyst and fourth ventricle, resulting progressive mass effect in the posterior fossa while no ventriculomegaly was found at lateral ventricles or third ventricle. The left frontal lesion also remained stationary. Therefore, emergent cystoperitoneal shunt (with median pressure valve) was performed, and she returned to clear conscious level after the operation. During this admission course, the fluctuation of her conscious level was observed despite cyst shunting. The revision of cystoperitoneal shunt to low-pressure valve was performed due to the remaining mass effect of the posterior fossa cyst found by the following image studies. Craniotomy for excisional biopsy of the left frontal lesion was also performed. Microscopic inspection of the specimen found not only hemorrhages, but also tumor cells with multi-sheet arrangement and morphology of polygonal / epithelioid cells. These tumor cells were characterized by melanin pigmentations both in the meninges and Virchow–Robin spaces. Focal invasion of the brain tissue by the tumor cells was also found. The tumor cells also showed nuclear pleomorphism, prominent nucleoli with moderate-to-high mitotic activity, which was compatible with malignant melanoma. Based on the malignant melanoma cells existing in the central nerves system, the multiple giant congenital melanocytic nevi over the trunk and extremities, the diagnosis of neurocutaneous melanosis is confirmed.

The postoperative recovery was well in a period, but her consciousness deteriorated rapidly after the improvement. Brain CT scan showed progressive hydrocephalus despite cystoperitoneal shunting [Figure 3]. External ventricular drainage through frontal horn was performed, and there was extremely high-protein content in the CSF (3156.4 mg/dL). Spinal MRI performed under the suspicion of spinal tumor seeding demonstrated diffuse leptomeningeal enhancement, causing syringomyelia and neural structure compression, especially in cervicomedullary junction [Figure 4]. She got better conscious level once hydrocephalus was relieved; thus, a frontal horn ventriculoperitoneal shunt was placed. However, multiple revision surgeries were needed due to frequent shunt malfunction in association with deteriorated consciousness thorough out the following treatment course.
Figure 3: Brain computed tomography showed hydrocephalus at bilateral ventricle, third ventricle (a), progressive enlargement of the fourth ventricle and posterior fossa cyst (b) despite cystoperitoneal shunt (arrow)

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Figure 4: Magnetic resonance imaging of spine revealed syringomyelia with engorged spinal vessels on T2-weighted imaging (a), causing compression at cervicomedullary junction. Contrast-enhanced T1-weighted imaging revealed diffuse leptomeningeal enhancement of whole spine suspecting spinal seeding of melanoma (b)

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Spinal cord compression at the cervicomedullary junction compromised the patient's respiratory function. After repeated weaning failure, tracheostomy was done. However, she still suffered from poor pulmonary hygiene and ventilator-dependent state. The patient eventually died due to septic shock weeks later.

  Discussion Top


Most cases of NCM suffered from neurological complications including intracranial hemorrhages, impairment of CSF circulation, or even malignant transformation.[1] Except intracranial neoplasm formation, leptomeningeal involvement demonstrated by image study may be an early clue for diagnosis, especially in those with significant cutaneous manifestations. By fluid-attenuated inversion recovery MRI images, diffuse leptomeningeal hyperintensity may be a unique finding in the diagnosis.[3]

Many hereditary syndromes were reported to be associated with NCM. DWM was the most likely combination and it may up to 10% in one previous review.[4] Narayanan et al. first described the association of neurocutaneous melanosis and DWM in 1987.[5] Since then, around 15 patients were reported.[4],[6]


In some cases of tuberculosis meningitis with hydrocephalus, high-protein level in CSF may result shunting failure due to easily obstruction of the tubes. In our case, due to extreme high-CSF protein level, persistently impaired CSF circulation refractory to shunt procedure was also the main problem we faced. Benign course after shunt, including ventriculoperitoneal or cystoperitoneal in association with DWM, was reported.[6] Extremely high-CSF protein level results in frequent shunt dysfunction and extremely poor prognosis in most cases. In both categories of tuberculosis meningitis with hydrocephalus and NCM, we suggest the use of large-sized external drainage when facing such condition and consider internal drainage after downgrade of CSF protein level.


In general, the prognosis of NCM is extremely poor, especially in those with acute deterioration.[1],[7] There were few case reports with long-term survival after an initial diagnosis, even with mass formation in central nervous system.[8],[9] However, most cases experienced progressive clinical deterioration after diagnosis.[1],[10] Spinal cord compression in the cervicomedullary junction affecting cough function made this patient poor pulmonary hygiene leading to sepsis, which is the major cause of mortality.

Although this syndrome is thought to represent an error in morphogenesis of the embryonal neuroectoderm, there were cases with different age of onset and various course of progression.[10] DWM is one of the usual hereditary abnormalities in combination with NCM clinically; however, a definite genetic association is not well established. The penetrance of such disease and factors related to the speed of disease progression may need molecular evidence for further explanation.

  Conclusion Top

We present an adult patient with NCM and DWM which was rarely reported during our literature review. Abnormality in melanocyte morphogenesis is thought to be responsible for this clinical syndrome; however, there must be some other factors contributing to the delay onset of clinical symptoms/signs in adult patient group. Further, patient stratification in combination with case-specific long-term genetic monitoring in adult patient group may help in clarification of the actual pathogenesis of this disease entity.

Patient consent

The next of kin has consented to the submission of the case report for submission to the journal.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understand that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Di Rocco F, Sabatino G, Koutzoglou M, Battaglia D, Caldarelli M, Tamburrini G. Neurocutaneous melanosis. Childs Nerv Syst 2004;20:23-8.  Back to cited text no. 1
Asanuma K, Kasai Y, Takegami K, Ito H, Yoshikawa T, Uchida A, et al. Spinal neurocutaneous melanosis without cutaneous nevi. Spine (Phila Pa 1976) 2008;33:E798-801.  Back to cited text no. 2
Hayashi M, Maeda M, Maji T, Matsubara T, Tsukahara H, Takeda K, et al. Diffuse leptomeningeal hyperintensity on fluid-attenuated inversion recovery MR images in neurocutaneous melanosis. AJNR Am J Neuroradiol 2004;25:138-41.  Back to cited text no. 3
Arai M, Nosaka K, Kashihara K, Kaizaki Y. Neurocutaneous melanosis associated with dandy-walker malformation and a meningohydroencephalocele. Case report. J Neurosurg 2004;100:501-5.  Back to cited text no. 4
Narayanan HS, Gandhi DH, Girimaji SR. Neurocutaneous melanosis associated with Dandy-Walker syndrome. Clin Neurol Neurosurg 1987;89:197-200.  Back to cited text no. 5
Schreml S, Gruendobler B, Schreml J, Bayer M, Ladoyanni E, Prantl L, et al. Neurocutaneous melanosis in association with dandy-walker malformation: Case report and literature review. Clin Exp Dermatol 2008;33:611-4.  Back to cited text no. 6
Chu WC, Lee V, Chan YL, Shing MM, Chik KW, Li CK, et al. Neurocutaneous melanomatosis with a rapidly deteriorating course. AJNR Am J Neuroradiol 2003;24:287-90.  Back to cited text no. 7
de Andrade DO, Dravet C, Raybaud C, Broglin D, Laguitton V, Girard N, et al. An unusual case of neurocutaneous melanosis. Epileptic Disord 2004;6:145-52.  Back to cited text no. 8
Schaffer JV, McNiff JM, Bolognia JL. Cerebral mass due to neurocutaneous melanosis: Eight years later. Pediatr Dermatol 2001;18:369-77.  Back to cited text no. 9
Kadonaga JN, Frieden IJ. Neurocutaneous melanosis: Definition and review of the literature. J Am Acad Dermatol 1991;24:747-55.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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