ENCEPHALOCELE

Herniation of the brain into the middle ear is a rare, but potentially life-threatening complication of chronic otitis media. Fifty patients with a tegmen defect associated with chronic otitis media were operated on between 1985 and 1998. Among these 50, 15 patients presented brain herniation associated with the bony defect. Fourteen patients had undergone previous mastoid surgery for chronic otitis media. Neurological symptoms were encountered in five patients. In 10, magnetic resonance imaging (MRI) was performed before surgery, and a diagnosis of brain herniation could be made. The hernia was repaired in all patients using a middle fossa craniotomy, combined with a transmastoid approach in 11 cases where a large hernia, and/or inflammatory tissues were present in the mastoid. The herniated brain tissue was resected in all, and the dural and bony defects were closed with fascia and bone. No complication or recurrence occurred, during a mean follow-up of 2 years. In conclusion, the...

The history and evolution of surgical strategies for the treatment of Kleeblattschädel deformity are not well described in the medical literature. Kleeblattschädel anomaly is one of the most formidable of the craniosynostoses, requiring a multidisciplinary team for surgical treatment. The initial descriptions of this cloverleaf deformity and the evolution of surgical treatment are detailed in the present report. Two illustrative cases of Kleeblattschädel deformity, syndromic and nonsyndromic craniosynostoses treated by the senior authors, are also described along with insights into operative strategies.

The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. Tmem231 and B9d1 are essential for each other and other complex components such as Mks1 to localize to the transition zone. As in mouse, the Caenorhabditis elegans orthologue of Tmem231 localizes to and controls transition zone formation and function, suggesting an evolutionarily conserved role for Tmem231. We identified TMEM231 mutations in orofaciodigital syndrome type 3 (OFD3) and MKS patients that compromise transition zone function. Thus, Tmem231 is critical for organi...

✓ A series of 300 consecutive stereotactic biopsies for intra-axial brain lesions performed by one neurosurgeon was critically analyzed regarding complications of the procedure. Complications were incurred by a total of 19 patients (6.3%). Five patients (1.7%) died following the procedure, all due to intracranial hypertension: one from subarachnoid hemorrhage, one from intracerebral hemorrhage, and three from increased edema without hemorrhage. The three patients who died without hemorrhage all had marked intracranial hypertension at the time of biopsy. All five patients who died harbored a glioblastoma multiforme. The surviving 14 patients (4.7%) with complications suffered increased neurological deficit due to hemorrhage. In 10 (3.3%), the deficit was mild and/or transient; in the other four (1.3%), a major deficit was incurred which markedly affected the remainder of the patient's life. Therefore, mortality or major morbidity was seen in 3.0% of patients and minor morbidity i...

Meningoencephalic herniation (MEH) in the middle ear and mastoid is a rare pathological entity with possible life-threatening complications. We treated 24 patients with a trans-mastoid approach, and the bony defect was closed by heterologous materials positioned in a multilayer fashion. The cause of the bony defect were chronic otitis media with cholesteatoma, iatrogenic, spontaneous and post-traumatic. The major presenting symptoms were meningitis, headache, conductive hearing loss, cerebrospinal fluid (CSF leak), neurologic deficit and pneumoencephalus, and stenosis of a canal wall down cavity. During follow-up, no patient developed complications due to surgery or related to the pathology, and imaging showed a stable occlusion of the bony defect. Different surgical treatments have been proposed to repair MEH, and the choice is based on the localization and size of the bony defect, preoperative auditory function and the presence of a coexisting pathology. We propose the use of coll...

We report on a 36-year-old patient who presented with coordinative problems in his right leg. The MRI study of his brain showed the extremely rare intradiploic meningoencephalocele which explained his symptoms. Most cephaloceles are inborn developmental disturbances and present with symptoms of different severity depending on the degree of associated malformations in early childhood. They usually demand immediate treatment. In the patient presented here the cephalocele belongs to the rare type of intradiploic meningoencephalocele. This is a variant of the intradiploic cerebrospinal fluid cyst and of traumatic instead of developmental origin.

Chiari malformations (CM) include a series of congenital anomalies involving the descent of the cerebellar tonsils below the foramen magnum, which may be associated with compression in the brainstem, upper spinal cord, and cranial nerves, consequently altering the responses of brainstem auditory evoked potentials (BAEP) and somatosensory evoked potentials (SSEP). However, only a small number of authors have described the indications of these tests in CM, and study groups to date have been small and heterogeneous. To review the results of BAEPs and SSEPs in published studies of patients with Chiari type 1 malformation (CM-1) or Chiari type 2 malformation (CM-2) as well as the indications of both tests in the diagnosis, treatment, and monitoring of both diseases, especially CM-1. We present a review article analyzing data from all published studies in Medline starting in 1966, located through PubMed, using combinations of the following keywords: 'Chiari malformation', 'Arn...

Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date. To identify a novel genetic cause of KS in a cohort of Saudi KS patients enrolled in this study. When COL18A1 mutation was excluded, autozygosity mapping was combined with exome sequencing. In one patient with first cousin parents, COL18A1 was excluded by both linkage and direct sequencing. By filtering variants generated on exome sequencing using runs of autozygosity in this simplex case, the study identified ADAMTS18 as the only gene carrying a homozygous protein altering mutation. It was also shown that Adamts18 is expressed in the lens and retina in the developing murine eye. The power of combining exome and autozygome analysis in the study of genetics of autosomal recessive disorders, even in simplex cases, has been demonstrated.

Two unrelated families are presented with repeated occurrences of a congenital syndrome of which the main stigmata were polycystic kidneys and occipital encephalocele (Meckel syndrome). Prenatal diagnosis, followed by interruption of pregnancy, was performed in one case. The diagnosis was based on an increase of amniotic alpha-fetoprotein (AFP), and on the mode of growth and cell types of cultured amniotic cells. In another similarly examined case the diagnosis was suspected, but the parents did not wish the pregnancy to be interrupted. The child was stillborn and malformed. AFP values are presented and discussed in relation to the observed malformations. Neural tube defects are associated with an increase of AFP in amniotic fluid, but, as in normal pregnancies, the values decrease with increasing gestational age. On the other hand, kidney malformations seem to be associated with AFP values which remain high or even increase with increasing gestational age.

PURPOSE: We describe imaging features that are clues to the diagnosis of atretic cephalo- celes and discuss clinical findings and a possible mechanism by which these lesions develop. METHODS: Eight children (five girls and three boys) ranging in age from 1 day to 3 years 4 months with midline subscalp lesions underwent radiologic examination with CT or MR imaging. In