BACKGROUND Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. CASE REPORT A women with Arnold Chiari malformation type II who was treated with oxybutyn...

A case of a 14-year-old girl suffering from intense headaches is presented. At the first pediatrician's examination, patient had regular findings. Prolonged P100 wave latencies were found by testing visual evoked potentials. After further examination following repeated headaches, Arnold Chiari type I malformation was diagnosed. classified as downward displacement one or both cerebellar tonsils ...

Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary ...

Brainstem auditory evoked potentials and clinical findings were examined in 18 children over the age of 5 years who were born with myelomeningocoele which was closed at birth, and whose hydrocephalus was managed by long term shunting in most of them. The potentials were compared with age and sex matched normal subjects and with four patients with hydrocephalus only. All but one had an abnormal ...

A rare case of haemangiomatous malformation affecting the mediastinum, spleen, kidney, and liver is described. The literature concerning mediastinal haemangiomas is discussed.

Myelomeningocele (MMC) is the most frequent congenital defect of the central nervous system for which there is no satisfactory alternative to postnatal treatment. On the contrary prenatal MMC surgery is conducting before birth and is aimed at protecting from Chiari II malformation. The main goal of fetal MMC repair is to improve development and life quality of children with Chiari II malformati...

Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturban...