Neurofibromatosis Type One and Two: Review On The Diagnosis Criteria

There are some neurocutaneous syndromes and neurofibromatosis is among them. This is a review on the diagnosis criteria of neurofibromatosis types one and two.

Hemimegalencephaly with Seizure: A Rare Congenital Malformation in a 22 months Old Boy

Isolated hemimegalencephaly (HME) is a rare congenital malformation of brain development, remarkable for its extreme asymmetry, and is characterized by the overgrowth of part or whole hemisphere. The enlarged hemisphere is manifested by hamartomatous characteristics with a dysplastic cell array of atypical morphology. Traditionally the genetic theories regarding the pathogenesis of HME are considered due to disturbance in cell signaling during neuroblast migration, cell differentiation, and proliferation, pattering, and symmetry. HME can present as isolated or associated with several neurocutaneous syndromes. The clinical picture varies depending on the severity of the malformation; however, HME patients typically exhibit refractory epilepsy, macrocephaly, colpocephaly, global developmental delay, intellectual disability, hemibody hypertrophy, and hemiparesis. Early diagnosis is crucial because despite neuroimaging and pathologic evidence, hemimegalencephaly sometimes still is unrecognized. Also, misdiagnosed as obstructive hydrocephalus or cerebral neoplasm can lead to unnecessary surgical procedures. Although hemispherectomy has high morbidity, it is recommended early for patients with severe, intractable epilepsy. We report a diagnosed case of a 22-month-old boy hemimegalencephaly who presented with seizures attack and was successfully treated with antiepileptic medications.

Ocular Manifestations in Neurocutaneous Syndromes with Emphasis on Neurofibromatosis – A Descriptive Observational Study

BACKGROUND Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce a variety of developmental abnormalities of the eye. Ophthalmic manifestations usually appear early in life and progress with time. The study was conducted to know the prevalence of ocular manifestations in neurocutaneous syndromes with emphasis on neurofibromatosis. METHODS This study was conducted in ophthalmology department at a tertiary care hospital during a period of 2 years among 30 patients. All phakomatoses referred from other specialty departments for ophthalmological evaluation and cases diagnosed in ophthalmology department during routine evaluation were included in the study. RESULTS Neurofibromatosis type 1 (NF-1) accounted for most of (66.67 %) the cases followed by Sturge Weber syndrome (SWS) (20 %). Majority (55 %) of NF-1 and 83.33 % of SWS and all patients of other phakomatoses were in the age group < 30 yrs. 55 % of NF-1 patients were males. 65 % of NF-1 patients gave positive family history. Lisch nodules, the most common ocular finding in NF-1 were present in 85 % of patients and of these 82 % were bilateral. Medullated nerve fibre was seen in 10 % of patients. Glaucoma was seen in 66.67 % of Sturge Weber syndrome patients. Conjunctional telangiectasia was seen in 16.67 % of Sturge Weber syndrome patients. Seizures and radiological features were seen in most patients with Sturge Weber syndrome. Megalocornea with normal intraocular pressure (IOP) was seen in both of our patients with posterior fossa malformations, haemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACES syndrome). Eyelid coloboma, ectropion uvea, hyperchromia iridis & myopia was seen in one patient with PHACES syndrome. A case of tuberous sclerosis had many systemic features like calcified subependymal nodules, renal angiomyolipomas, skin features and the only ocular finding was hypopigmented iris spots. CONCLUSIONS Ophthalmologist has a role in early recognition of the neurocutaneous syndrome from specific ocular features (like Lisch nodule in NF-1), reducing ocular morbidity by timely treatment (of conditions like glaucoma) and prompt referral to concerned speciality for management of systemic involvement. KEYWORDS Neurofibromatosis, Sturge Weber Syndrome, Tuberous Sclerosis