Neurocutaneous Disorders

Neurocutaneous disorders, formerly called phakomatoses, are characterized by cutaneous and neurologic findings. Many are genetic, but some are sporadic. Often these disorders affect other organ systems as well and require lifetime surveillance for complications. Neurofibromatosis type 1 is the most common neurocutaneous disorder. With a prevalence of approximately 1 in 3,000 persons, it is more than 10 times more common than neurofibromatosis type 2.

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. We report one of the first cases diagnosed after termination of pregnancy at 35 WG, including antenatal and post-mortem imaging, complete autopsy and genetic analysis. Prenatal ultrasound and MRI of the third trimester showed multifocal spinal lesions and left lateral cerebral ventriculomegaly with cerebral atrophy. Diagnosis of ECCL was suggested at complete autopsy which revealed nevus psiloliparus of the scalp, facial hamartomas and intracranial and spinal lipomas. In addition, our case also exhibited a cardiac rhabdomyoma and a multicystic dysplastic kidney, both never reported to date in this syndrome. ECCL was confirmed by the identification of a postzygotic FGFR1 mutation. We reviewed the literature and discuss the pathogenesis of this syndrome.

CASE SERIES OF NEUROFIBROMATOSIS AND ITS VARIED MANIFESTATIONS IN PREGNANCY: AN OBSTETRICIAN’S PERSPECTIVE

Neurobromatosis (NF) type1 is a relatively common genetic neurocutaneous disorder with variable clinical expression. It has been linked with obstetric complications like preeclampsia in the mother and fetal growth restriction(FGR), preterm birth and stillbirth in the fetus. NF1 is frequently associated with bony dysplasia and neurological manifestations like seizure disorder, large disguring plexiform neurobroma and malignant nerve sheath tumors. Due to the above-mentioned concerns, pregnancy and childbirth can be challenging in women with NF1. Timely screening and regular monitoring are required for early diagnosis and treatment of these conditions, to ensure optimal obstetric care. We present in our case series, the management, maternal and fetal outcomes of 7 pregnancies in ve women with neurobromatosis.

MATERNAL TUBEROUS SCLEROSIS WITH FETAL CARDIAC RHABDOMYOMA – A CASE REPORT

Tuberous sclerosis is a multisystemic, autosomal dominant neurocutaneous disorder of hamartoma formation affecting multiple organ systems and hence adversely affecting the maternal and fetal outcome. We report a case of maternal tuberous sclerosis with fetal cardiac rhabdomyoma detected in utero at 22 weeks but presented at 39 weeks of gestation. We conclude that Maternal or Fetal tuberous sclerosis deserves careful monitoring and evaluation so that the patients can be counselled regarding its life threatening complications to the baby and make informed decision regarding continuation of pregnancy

An interesting case of lip swelling!

Melkersson-Rosenthal Syndrome (also termed “Miescher-Melkersson-Rosenthal Syndrome”) or (MRS), is a rare neurocutaneous disorder characterized by the clinical triad of recurring facial nerve paralysis, swelling of one or both lips and fissural tongue. We report a patient with Melkersson-Rosenthal Syndrome initially referred to Dermatology Department as angioedema. The diagnosis and treatment procedures were presented with special emphasis to the clinical features of this rare condition.

NEVUS COMEDONICUS – A CASE REPORT

Nevus Comedonicus (NC), also known as comedone nevus, is a rare type of epidermal nevus. It can be a part of the Nevus Comedonicus syndrome, a neurocutaneous disorder with ocular, skeletal and central nervous system symptoms. It is characterized by numerous dilated follicular openings with keratin plugs. Hereby, we report a case of Nevus Comedonicus.

Sturge-Weber syndrome presenting in late adulthood

A 75-year-old woman presents to the acute medical take with confusion and headache following a road traffic accident. She had previously been fit and well, living alone with no assistance. Following multiple investigations, she was diagnosed with Sturge-Weber Syndrome, a rare neurocutaneous disorder that usually presents with seizures in childhood. This case highlights an unusual example of this syndrome, presenting for the first time later in life.

Manifestaciones gastrointestinales en neurofibromatosis tipo 1. Reporte de un caso

Neurofibromatosis type 1, also known as von Recklinghausen disease, is an inherited neurocutaneous disorder with gastrointestinal involvement in 5-25% of the patients, which develops following cutaneous manifestations. Only 5% have symptoms such as abdominal pain, diarrhea, palpable mass, bleeding, obstruction or intestinal perforation. There is an increased risk of developing digestive malignancies, frequently in the small bowel. The following report presents the case of a patient with neurofibromatosis type 1, with the diagnosis of a jejunal gastrointestinal stromal tumor and a fibroid inflammatory polyp in the context of gastrointestinal bleeding.

Forehead plaque in a child with epilepsy: A clue for tuberous sclerosis

Tuberous sclerosis complex is a common neurocutaneous disorder that predominantly affects the brain, skin, eyes, heart and kidneys. The management of tuberous sclerosis complex has been revolutionised with vigabatrin for spasms and everolimus for angiomyolipomas and seizures. We describe a 10-year-old girl with generalised tonic-clonic seizures whose diagnosis of tuberous sclerosis complex was made in view of the presence of a forehead plaque. Certain clinical pointers such as ashleaf macules, café-au-lait spots, shagreen patches and forehead plaques must therefore be looked for in a child with unprovoked seizures.

The Natural History of Retinal Vascular Changes from Infancy to Adulthood in Wyburn-Mason Syndrome

Wyburn-Mason syndrome is a rare, non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations. Malformations are characterized by an artery that is directly connected to veins without a capillary system and forms a fragile mass of abnormal vessels. It can be found in the midbrain, in the eyes, orbit, and rarely in cutaneous nevi. Neurological and ocular symptoms are the most common. Ocular signs and symptoms include abnormally dilatated vessels of conjunctiva, nystagmus, strabismus, vitreous hemorrhage, vein occlusions, retinal detachment, etc. Neurological symptoms may include headaches, paralysis, epistaxis, hydrocephalus, and hemiparesis. Imaging modalities such as MRI/CT angiography, optical coherence angiography, and fluorescein angiography are the most important for the identification of arteriovenous malformations. In our case report, we present an eight-month-old girl with an incidental finding of retinal angiomatosis on the left eye and was subsequently diagnosed with Wyburn-Mason syndrome. We compare the findings from the first visit to her clinical findings 20 years later.