objective proteus syndrome is an extremely rare, sporadic and progressive disorder. we describe a four-month-old male baby with central nervous system manifestations in this article. clinical presentation a four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. each seizure attack lasted less than 10 m...

OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies ...

We report on a new case of a single band duplication of the long arm of chromosome 7, dir dup (7)(q36----qter). The major manifestations are developmental delay (particularly speech), frontal bossing, macrocrania, and constant drooling. When compared with other cases involving a 7q duplication of various segments, our patient has a few minor anomalies. This case illustrates the genotype/phenoty...

BACKGROUND AND PURPOSE The relationship between enlarged subarachnoid spaces and subdural collections is poorly understood and creates challenges for clinicians investigating the etiology of subdural collections. The purpose of this study was to determine the prevalence of subdural collections on cross sectional imaging in children with macrocephaly correlating with subarachnoid space enlargeme...

DOI: 10.1590/S1679-45082014AI2931 A previous healthy 7-year-old boy presenting occipital headache and constantly wake up at night with 1 week of evolution was admitted to our emergency service. He had linear hypopigmented macules along the lines of Blaschko affecting hemithorax and left upper limbs (Figure 1). The patient also had macrocrania, antimongoloid palpebral fissure, changes in left ey...

Pial arteriovenous fistula (AVFs) are a rare, although clinically significant, vascular anomaly affecting the pediatric population, consisting of high-flow connection between one or more pial arteries and venous. In children, clinical presentation varies according to age, can present with high output cardiac failure, macrocrania, neurodevelopmental delay, seizures, venous infarctions due stenos...

Arachnoid cysts (AC) are extra-cerebral cerebrospinal fluid collections of unknown origin. They correspond to 1% of all intracranial nontraumatic space-occupying lesions and appear more frequently in the middle fossa (50%). More than 25% of these cysts are incidental findings and the majority of patients are asymptomatic. Seizures, intracranial hypertension signs, neurological deficits, macrocr...

Case presentation: The patient was the first child of healthy non-consanguineous parents. She a late preterm, infant diabetic mother and born in cesarean due to polyhydramnios. By age one year old, family noticed leukocoria right eye she diagnosed with unilateral retinoblastoma. Histopathological analysis compatible differentiated group D successfully treated primary enucleation chemotherapy vi...