Leptomeningeal melanocytosis in an adult male without large congenital nevi: a rare and atypical case of neurocutaneous melanosis

Leptomeningeal melanocytosis is a primary melanocytic lesion of the central nervous system that is characterized by diffuse melanocytic infiltration of the leptomeninges. It is seen almost exclusively in children with large congenital nevi and together the findings form a dermatologic syndrome known as neurocutaneous melanosis. We report a rare and atypical case of a 31-year-old adult male with no evident congenital melanocytic lesions who presented with neurologic symptoms and was found to have leptomeningeal melanocytosis. The brain biopsy demonstrated a conspicuous but benign-appearing melanocytic infiltrate that was discordant with the severity of the patient's symptoms. Ultimately, the patient was suspected to represent a case of former fruste neurocutaneous melanosis. Herein the relevant clinical and histopathologic features are discussed along with a brief review of the literature.     

Neurocutaneous melanosis in a newborn with giant congenital melanocytic nevus

Neurocutaneous melanosis (NCM) is known as a rare phakomatose characterised by large or numerous pigmented congenital nevi associated with leptomeninges melanin-containing deposits. We report a case of a newborn presenting at birth with a giant nevus covering about 40% of the total body surface. MRI showed T1 hyperintensities in the right amygdala and predominantly in the cerebellum corresponding to melanocytic cells.     

Multiple giant congenital melanocytic nevi with central nervous system melanosis

A case of multiple giant congenital melanocytic naevi in whom central nervous system melanosis was detected at 6 weeks of age is described. The infant was asymptomatic, but presence of risk factors such as multiple naevi, giant naevi and naevi on scalp and posterior axial location prompted a magnetic resonance imaging study of the brain. To our knowledge, neurocutaneous melanosis at such a young age has not been reported in Indian literature.     

The coincidence of neurocutaneous melanosis and encephalofacial angiomatosis

The case of a 21-year-old woman who was affected by both encephalofacial angiomatosis (Sturge-Weber syndrome) and neurocutaneous melanosis is reported. Her signs and symptoms consisted of an interesting overlap of the characteristics of these two neurocutaneous syndromes with glaucoma, hydrocephalus, epilepsy, mental retardation and vascular and melanotic skin lesions observed throughout her course. The clinical diagnosis presented considerable difficulties. The simultaneous occurrence of these two disorders has not been previously reported and this is the first reported case where the cutaneous lesions and their histology, the neuropathology and the clinical features of both disorders is described in one individual.     

Pineal germinoma associated with multiple congenital melanocytic nevi: A unique presentation

Intracranial germ cell tumors are rarely seen and typically localize in the pineal or suprasellar region. The largest category of germ cell tumors is the germinoma. There have been reported associations of malignant tumors and chromosomal abnormalities in germ cell tumors. In this study, we present a 22‐year‐old man with multiple congenital melanocytic nevi in association with pineal tumor. Congenital melanocytic lesions greater than 2 cm were counted to be 54 in number, and those smaller than 1 cm in diameter were found to be 25 in number. The pathological diagnosis of the pineal tumors was germinoma, and the lesions located in the occipital region and trunk were compound congenital nevi. To our knowledge, a relationship between multiple congenital melanocytic nevi and germ cell tumors has not been reported before. The connection between them remains to be clarified.     

Neurocutaneous melanosis: follow-up and literature review

Neurocutaneous melanosis is a rare, congenital, non-inherited syndrome characterized by numerous and/or large congenital nevi with intracranial leptomeningeal melanocytosis. This report describes two patients, presenting with a giant congenital nevus involving a major portion of the posterior trunk with satellite congenital nevi scattered all over the body, who developed seizures at 4 and 6 months of age, respectively. Changes in follow-up magnetic resonance (MR) examinations over an 8-year period were seen in case 1, while parenchymal melanocytic accumulation was reported in the region of the amygdala in case 2. These cases emphasize that neurocutaneous melanosis should be suspected in patients with giant congenital nevus with or without neurological symptoms. Also, neuroaxial MR screening should be performed in all cases and, ideally, before myelination of the brain to provide the highest sensitivity for detecting melanin deposits in the leptomeninges.     

Giant congenital melanocytic nevi in a patient with brain structural malformations and multiple lipomatosis

We present a 9-year-old boy diagnosed from birth with giant congenital melanocytic nevi. He had central structural brain malformations of hemimegalencephaly of the right frontotemporal lobe and left occipitoparietal lobe, choroid plexus hypertrophy, and a Dandy-Walker variant. In addition, he developed multiple lipomatoses. These lesions were cutaneous except for two at the cerebellopontine angles, which were present from birth. This patient represents a rarely documented example of two histopathologies resulting in serious complications. The diagnostic issues and histopathologic process are discussed.     

Merosin-positive congenital muscular dystrophy: a large inbred family

Large families with congenital muscular dystrophy are rare. We report a clinical, histopathological, immunocytochemical, electrophysiological, radiological and genetic study of 10 cases affected by "pure" CMD belonging to two generations of a large inbred Palestinian family. The disease showed autosomal recessive inheritance. All patients had generalised muscular weakness and hypotonia at birth without arthrogryposis. They had a relatively benign clinical course with stabilisation of the clinical picture at different ages and at variable degrees of severity. The pattern of muscle weakness and wasting was more marked in the proximal upper limb-girdle and trunk muscles. Lower limb muscles were more mildly involved. Serum CK was normal or moderately increased. All patients had normal intelligence, normal computed tomography (CT) scans of the brain and normal somatosensory evoked potentials (SEP). Electromyography (EMG) and muscle biopsy showed morphological changes compatible with muscular dystrophy. Immunocytochemistry for dystrophin, laminin alpha 2 of merosin, and for alpha, beta, gamma sarcoglycans was normal. Linkage analysis excluded all the known loci for CMD, including laminin alpha 2 on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3, the integrin alpha 7 locus on chromosome 12q13 and the recently identified locus on 1p35-36. The family we present is clinically and genetically distinct from the already mapped forms of congenital muscular dystrophy. Genetic studies are in progress to localise the gene responsible for this condition.     

Neurocutaneous melanosis and psychosis: a case report

The paper describes a case of neurocutaneous melanosis (NM), with mental retardation, chronic psychosis, and epilepsy possibly due to a temporal focus. This is the first report of NM associated with a severe and chronic psychosis. It is likely that such an association has not previously been described because of the ominous prognosis of most cases of NM with early involvement of the central nervous system.     

Cystic cochleovestibular anomaly presenting with congenital deafness and recurrent bacterial meningitis in childhood

Recurrent bacterial meningitis (RBM) in many instances is associated with identifiable anatomical defects. Presence of congenital deafness with recurrent meningitis should alert clinician for presence of middle and inner ear malformation. These defects can be demonstrated by various neuro imaging techniques and can be surgically corrected. In this case report we describe a child seen at our institute with congenital deafness and recurrent meningitis, discuss the approach to RBM and briefly describe inner ear malformation associated with the same and how to differentiate them.     

Neurocutaneous melanosis in an adult patient with diffuse leptomeningeal melanosis and a rapidly deteriorating course: case report and review of the literature

Neurocutaneous melanosis (NCM) rarely begins in adulthood. Due to the late onset of neurologic symptomology, a prompt diagnosis is often misleading or delayed, particularly in patients with pure leptomeningeal involvement. We describe herein a 25-year-old patient with congenital giant melanocytic nevi at birth, presenting with diffuse leptomeningeal melanocytic involvement, particularly within the basilar region of the brain. He developed a rapid increase in the size of the lesion over a short period of time, leading to rapid deterioration and death. The neuroradiologic feature in this case was unusual compared with previously reported adult cases of NCM. This case illustrates the importance of considering the likelihood of underlying NCM when evaluating adult patients with neurologic symptoms and cutaneous melanosis.     

Neurocutaneous melanosis, neurofibromatosis and spinal meningioma: an unusual association

The case of 38-year-old woman bearer of a congenital giant naevus "en pélerine" with numerous neurofibromas and other satellite naevi was reported: the patient was afflicted by spastic tetraparesis, more pronounced on the right side. MRIscan of the spine revealed the presence of a cervical spinal tumor shown histologically to be a psammomatous meningioma. The skin picture was consistent with neurocutaneous melanosis; the rarity of its association with neurofibromatosis and spinal meningioma is discussed in the light of embryologic arguments.     

脑膜恶性黑色素瘤病三例临床病理及神经影像学特点

目的 探讨脑膜恶性黑色素瘤病的临床、病理及神经影像学特点.方法 对我院收治的经病理确诊的3例脑膜恶性黑色素瘤病患者进行观察,总结其临床、脑脊液细胞学、神经影像学、脑膜组织病理等方面特点.结果 3例患者均以头痛起病,随后出现脑膜刺激征.其中1例皮肤有巨大黑色素痣,1例额部黑痣破溃经久不愈,另一例无皮肤及内脏黑色素瘤,为原发性.3例患者颅脑MRI强化后显示软脑膜及蛛网膜弥漫性较均匀强化并增厚.脑脊液可见大最的异形细胞.脑膜呈黑褐色或深棕色,光镜下肿瘤细胞呈多形性,核大而圆或呈不规则形,胞质丰富,核分裂象可见,胞质内黑色素颗粒聚集,细胞排列紊乱.免疫组织化学分析S-100蛋白、波形蛋白、黑色素瘤抗体HMB-45等胞质反应阳性.结论 脑膜恶性黑色素瘤病临床主要表现为头痛及脑膜刺激征,脑脊液可见大量的异形肿瘤细胞.脑膜病理见肿瘤细胞胞质内黑色素颗粒聚集、瘤细胞排列紊乱.颅脑强化MRI对该病的诊断具有一定价值.     

神经皮肤黑变病:一例报告并文献复习

目的 探讨神经皮肤黑变病的临床病理学特征,并复习相关文献.方法 与结果1例19岁男性患者,头面部、躯干、四肢皮肤弥漫或散在多发性黑色素痣.头部MRI检查显示左侧额叶内侧占位性病变伴出血.手术中可见局部蛛网膜散在黑色微小斑点,左侧额叶内侧皮质有3cm×4cm浅黑色病灶.光学显微镜观察肿瘤细胞呈"铺路石样"镶嵌排列,细胞质饱满、含大量色素,细胞核异型性明显,细胞形态呈多样,可见大而怪异的肿瘤细胞及多核瘤巨细胞向脑实质或血管周围间隙呈浸润性生长,伴出血.肿瘤细胞波形蛋白、S-100蛋白和人黑色素细胞瘤抗原45均表达阳性,Kj-67抗原标记指数<25%,胶质纤维酸性蛋白、神经丝蛋白、神经元特异性烯醇化酶和细胞角蛋白表达阴性.结论 神经皮肤黑变病为临床少见、发生于皮肤和脑膜的弥漫性或局灶性黑色素细胞增生性斑痣性错构瘤病.皮肤黑色素痣通常呈良性.而脑膜黑色素细胞则具有恶变潜能,患者预后不良,约50%患者于出现神经系统症状后3年内死亡.     

Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome.

A female child with brachycephaly, hypertelorism, convergent strabismus, interstitial keratitis, analgesia on both sides of the face, absent corneal reflexes, and focal congenital alopecia of a zone of the occipital and posterior parietal scalp is presented. The patient also had generalized hypotonia in early life, and at age 4 years 9 months, she was found to be moderately mentally subnormal and to have severe cerebellar deficit consisting of gait and truncal ataxia. There was no clinical evidence of other cranial nerves being affected. It is postulated that the patient has a cerebellotrigeminal and focal dermal dysplasia due to a development arrest of the ectoderm, which gives rise to the alar plate of the rhombencephalon, the overlying epidermis, the motor nucleus of V, and the trigeminal placodes.     

Ectodermal dysplasia and brain cystic changes: confirmation of a novel neurocutaneous syndrome

Ectodermal dysplasia is a rare congenital disorder characterized by dry, brittle hair, dental malformations, and skin abnormalities. It is thought to be the result of embryonic ectodermal dysgenesis, affecting tissues and structures that are widely separated but with common developmental origins. Recently, this disorder has been associated with a unique neuroimaging appearance, consisting of widely dilated perivascular spaces. This association has been proposed as a novel neurocutaneous syndrome, identified in one report as "cerebrum polycystica vera." We report a similar patient with dilated perivascular spaces associated with dermatologic manifestations consistent with ectodermal dysplasia. This patient was otherwise normal, without neurocognitive deficit. Additional neuroimaging findings included widespread white-matter high signal intensity on T2-weighted magnetic resonance imaging, as well as normal findings on magnetic resonance spectroscopy. This case confirms the association of ectodermal dysplasia and brain cystic changes and appears to expand the phenotypic manifestations that may be seen in such patients.     

神经皮肤黑变病合并部分性癫疒间

目的：讨论神经皮肤黑变病（NCM）合并部分性癫疒间的手术治疗及效果。方法回顾性分析1例NCM合并癫疒间病人的临床资料。皮质电极监测后,行颞极及颞叶新皮质部分切除术。结果术后脑组织病理提示：颞极见大量黑色素细胞,原发性脑膜黑色素细胞增生症。皮肤病理提示复合性色素痣。术后10个月无癫疒间发作。Engel分级Ⅰ级。结论 NCM是癫疒间的罕见原因,但手术治疗效果满意。致疒间灶切除术是一种安全有效的治疗方法。