Neurocutaneous melanosis is a rare non-familial congenital neurocutaneous syndrome characterized by the presence of large or multiple congenital melanocytic nevi in association with benign or malignant proliferation of melanocytes in the leptomeninges. It is believed to be an embryonic neuroectodermal dysplasia. The Dandy Walker complex is an uncommon disorder of the CNS, also. refers to a condition with a broad posterior fossa and high tentorium insertion, hypoplasia or aplasia of the cerebellar vermis and cystic dilation of the fourth ventricle communication with the posterior fossa. We report a patient with NCM associated with the DWC that was diagnosed by MRI. The patient had multiple, small to medium-sized melanocytic nevi on the scalp and back, presenting at birth. At 6 months of age, frequent daily attacks of partial seizures were noted. T1 weighted MR images showed multiple high signal lesions in the amygdala, cerebellar folia, deep nuclei, and basis pontis, compatible with intraparenchymal melanin deposits. In addition, hypoplasia of the inferior vermis and a broad posterior fossa were identified. The patient failed to respond to oxcarbazepine. The seizure frequency did not decrease for the first three months. Vomiting and mild elevation of the liver enzymes were observed after adding valproic acid. However, after topiramate was started the frequency of the seizures decreased, and the oxcarbazepine and valproic acid were discontinued. With 5 mg/kg of topiramate treatment, the patient became seizure free for 20 months; however, infrequent seizures recurred thereafter. The dosage of topiramate was increased to 13 mg/kg, and for the following 15 months, there have been no seizures. Seizures were well controlled by topiramate for four years.
Amygdala ; Carbamazepine ; Dandy-Walker Syndrome ; Fourth Ventricle ; Fructose ; Humans ; Liver ; Melanins ; Melanocytes ; Melanosis ; Neural Plate ; Neurocutaneous Syndromes ; Nevus, Pigmented ; Parturition ; Scalp ; Seizures ; Valproic Acid ; Vomiting

PURPOSE:Persistent pulmonary hypertension of the newborn (PPHN) is life threatening neonatal disease. Nitric oxide (NO) has been proven to improve oxygenation, however its usage is limited and 30% of patients with PPHN are NO nonresponders. Milrinone decreases right ventricular afterload and has selective pulmonary vasodilator effect. We studied the effects of milrinone on neonates with respiratory failure originated in PPHN. METHODS:Six neonates, who had oxygen index above 20 and responded poorly to other management, were treated with intravenous milrinone after confirming pulmonary hypertension with echocardiography. We reviewed their medical records retrospectively. Intravenous milrinone was started at a dose of 0.375 microgram/kg/min. Respiratory indices (Oxygenation index [OI], ventilation settings, and arterial blood gas) and cardiovascular stability (mean arterial pressure and heart rate) were documented just before; and at 6, 12, 24, 36, 48, and 72 hours after commencement of milrinone therapy. The primary outcome was the effect of milrinone on oxygenation, which was 40% reduction in OI. RESULTS:Primary cause of PPHN was meconium aspiration syndrome in three infants, respiratory distress syndrome (RDS) in the other three. Milrinone was commenced at a median age of 22.3+/-6.1 hours with a dose of 0.375 microgram/kg/min except one infant (0.5 microgram/kg/min) and infants were treated for median 58.3+/-16.7 hours. OI of all infants showed 40% reduction within 24 hours. There were no mortality, and no infants with hypotension, and intraventricular hemorrhage. CONCLUSION:Milrinone proved to be effective for PPHN by improving oxygenation. It did not cause any complications in clinical trials for newborns. It is suggested that Milrinone can replace NO or can be used as adjunct to NO in the treatment of PPHN.
Arterial Pressure ; Echocardiography ; Heart ; Hemorrhage ; Humans ; Hypertension, Pulmonary* ; Hypotension ; Infant ; Infant, Newborn* ; Meconium Aspiration Syndrome ; Medical Records ; Milrinone* ; Mortality ; Nitric Oxide ; Oxygen ; Respiratory Insufficiency ; Retrospective Studies ; Ventilation