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At least 235 records · Page 13Linked to original sources
PubMed1991

Encephaloceles: a review 1971-1990.

Fifty-two patients with an occipital encephalocele were managed at our institution between 1971-1990 inclusive. The case notes of fifty-one patients were available for review. Thirty-four of the patients presented in the first decade of the study. Fifty-seven per cent (29) developed hydrocephalus and 18 of these required shunting. The overall one year mortality was 23% (12) but only one patient died within the last decade. Of 23 patients followed up by postal questionnaire to general practitioners; 14 had no obvious deficit and 9 had a combination of deficits. Only one death occurred after one year of life in a child with a very severe handicap.

Encephalocele↗
PubMed1990

The characteristics of patients with encephaloceles.

Some of the intellectual, physical and family characteristics of 72 patients with encephaloceles were examined. Their numbers reached a peak in the 1960s and have declined dramatically since then. 70% of the patients were female. Many of the children had additional problems including hydrocephalus (34%), severe visual impairments (34%), inability to walk (21%), and urinary incontinence (13%). Their mean IQ was 65.2, and the males tended to be more physically and intellectually disabled than the females.

Child↗
PubMed1985

Sphenopharyngeal encephalocele associated with agenesis of the corpus callosum.

A case of a 38-year-old patient, who had been complaining for some years about impairment in nasal breathing, is presented. Within the last few months the patient presented a rapid deterioration of his visual acuity. Radiological examinations revealed a sphenopharyngeal encephalocele as well as agenesis of corpus callosum. The pathogenesis and therapy of the disease is discussed in the light of the particular case presented as well as those cases reported in the literature.

Adult↗
PubMed2001

Spontaneous cerebrospinal fluid rhinorrhoea in anteromedial temporal occult encephalocele.

A 75-year-old man was admitted because of a spontaneous rhinorrhoea without a previous history of head injury. Computed tomography showed bone rarefaction of the floor of the middle cranial fossa and magnetic resonance imaging demonstrated a right temporal encephalocele. This was treated via extradural approach, and the bone defects were plugged with temporalis fascia, muscle and the fibrin glue. No recurrence of rhinorrhoea was observed at the follow-up (1 year).

Aged↗
PubMed1996

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM.

Abnormalities, Multiple↗
PubMed1996

Giant congenital nevocellular nevus overlying an encephalocele.

Discussion regarding the diagnosis, prognosis, and management of giant congenital nevocellular nevi (GCNN) has permeated the literature because of concerns regarding malignant potential. As a derivative of dysgenetic neural crest development, GCNN histology in the neonate may be quite variable and not easily discernible from malignant melanoma, presenting a diagnostic dilemma to both the seasoned pathologist and surgeon. Here we present an interesting case of GCNN arising from a large encephalocele in a neonate. In spite of a clinically aggressive course, histology repeatedly failed to meet the criteria for melanoma until the diagnosis of malignant melanoma was made at autopsy. Clinical suspicion for malignancy must be high when evaluating atypical large nevi, and prompt surgical management is necessary to protect against the risk for malignant melanoma.

Brain Neoplasms↗
PubMed1978

Transsphenoidal encephalocele associated with agenesis of corpus callosum: value of metrizamide computed cisternography.

Transsphenoidal encephaloceles are rare congenital malformations that are classified among the medial dysraphias and that are therefore associated with an agenesis of the corpus callosum. Clinically, the diagnosis is difficult, but hypertelorism and weakening eyesight should be of suggestive value. Diagnosis is basically radiological. In the past, it was founded on roentgenography, tomography of the base of the skull, pneumoencephalography, and angiography when necessary. Today, metrizamide computed cisternography using axial transverse and coronal sections, supplemented by sagittal reconstructions, allows for a complete examination of bony, meningeal, and cerebral abnormalities.

Agenesis of Corpus Callosum↗
PubMed1996

Endoscopic repair of cerebrospinal fluid fistulae and encephaloceles.

The authors review their experience with endoscopic repair of skull base defects associated with cerebrospinal fluid (CSF) rhinorrhea and/or encephaloceles involving the paranasal sinuses. Between January 1991 and December 1995, 51 patients were evaluated for anterior and middle cranial fossa defects at a tertiary care facility. Of these patients, 36 underwent endoscopic repair of skull base defects. Factors related to surgical success were analyzed. These factors included etiology, defect location, number of prior attempts at repair, type of graft(s) used, fluorescein use, complications, durations of lumbar drain placement, and duration of CSF leakage prior to repair. During the first attempt, successful endoscopic repair was accomplished in 34 (94.4%) of the 36 patients. The mean duration of follow-up was 24.6 months, with a range of 2 to 57 months. The authors conclude that an endoscopic approach provides a safe and effective means for repairing many skull base defects.

Adolescent↗
PubMed1996

Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus.

Ultrasonographic and pathoanatomical features of a fetus displaying bilateral brachial amelia, complex facial clefting, encephalocele and omphalocele are described. The findings are compared with the few previously published cases. Bilateral brachial amelia with complex other organ malformations in previable fetuses may be more frequently diagnosed with improving prenatal ultrasonography.

Abnormalities, Multiple↗
PubMed2003

Common craniofacial anomalies: facial clefts and encephaloceles.

The wide variety of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the causes, assessments, and treatments of the most frequently encountered craniofacial anomalies. Facial clefts and encephaloceles are reviewed with respect to their diverse causes, pathogenesis, anatomical features, and treatments. Approaches to the surgical treatment of these conditions are reviewed.

Craniofacial Abnormalities↗
PubMed1979

Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome).

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.

Amniotic Fluid↗
PubMed2004

C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia.

BACKGROUND: Frontoethmoidal encephalocele (FEE) is a neural tube defect (NTD) characterized by a congenital bone defect in the anterior cranium and herniation of the intracranial mass through the defect. The C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) has been reported as a genetic risk factor for spina bifida. However, the role of the MTHFR in the pathogenesis of FEE remains to be clarified. METHODS: A hospital-based survey of FEE patients who were referred to the Department of Neurosurgery and Plastic Surgery, Malang General Hospital, East Java, Indonesia was conducted. Genetic screening of MTHFR substitutions in 13 patients and eight mothers from 11 affected families were performed using a combination of polymerase chain reaction (PCR), denaturing high-performance liquid chromatography (DHPLC), and direct sequencing. RESULTS: In total, 130 patients with FEE among 138 NTD patients (94.2%) were identified. The ratios of cranial encephalomeningocele to spinal meningocele (32 : 1) and of FEE to occipital encephalomeningocele (32 : 1) were higher than those in other populations. Five substitutions were detected in the MTHFR: C121T, C677T, C1060T, A1298C, and G1793A. No significant differences were found in the frequency of each nucleotide substitution between patients or mothers and controls. In addition, none of the subjects in this study were homozygous for T at nucleotide position 677. CONCLUSION: FEE is the most common form of NTD in East Java, Indonesia. Genetic analysis of 11 affected families suggests that the MTHFR gene is not associated with the development of FEE, although the number of FEE families analyzed in this study was very limited.

Adult↗
PubMed1991

Meningoceles, meningomyeloceles, and encephaloceles: a neuro-dermatopathologic study of 132 cases.

Because there have been few comprehensive histopathologic studies of meningomyeloceles and related malformations, we undertook a systematic study of these lesions. One hundred and thirty two cases were obtained from our surgical pathology files; these included 38 meningoceles, 71 meningomyeloceles, and 23 encephaloceles. Tissue sections were stained with hematoxylin and eosin; special stains included trichrome, alcian blue, Fontana-Masson, Nissl, Holzer, and immunoperoxidase for glial fibrillary acidic protein. Epithelial changes included ulceration, atrophy, or nevoid hyperplasia of the epidermis, and loss of appendages. Mesodermal features included fibrous zones resembling dura, subarachnoid tissue or scar (99% of cases), increased numbers of blood vessels (83%), hypertrophy of arrector pili muscle (42%), lipoma formation (38%), and immature skeletal muscle fibers (5%) that rarely intermingled with neuropil-like matrix. The latter tissue was identified in 71% of cases and included neurons, astrocytes, oligodendroglia, and ependyma. Forty-eight percent of cases included peripheral nerve fibers or roots, and some fibers formed onion bulb or Pacinian corpuscle-like structures. Meningothelial cells were observed in 26% of cases and sometimes formed recognizable whorls. Choroid plexus was noted in 3 cases, one example showing an unusual dystrophic calcification that formed long parallel spicules. Pigmented dendritic cells were observed within zones of fibrous tissue in 10% of cases. These malformations involve complex arrangements of cutaneous, neuroectodermal, and mesodermal elements. Because they may be encountered by dermatopathologists, familiarity with the microscopic features of dysraphic lesions is essential.

Encephalocele↗
PubMed1998

Encephalocele with an area mimicking giant cell fibroblastoma. Case report.

We report a unique case of encephalocele with an area mimicking giant cell fibroblastoma. A 4-month-old boy had been born with a parietal midline mass of the head, measuring 3x3x1.5 cm. Microscopically, it consisted of fibrous connective tissue and brain tissue. The fibrous tissue revealed spindle cells and multinucleated giant cells lining sinusoid-like spaces. This area was reminiscent of giant cell fibroblastoma. These cells were immunopositive for vimentin and negative for CD34. The giant cell fibroblastoma-like lesion in our case seems to be non-neoplastic and hamartomatous, and we think that the immunohistochemistry using CD34 is useful for differentiating the two lesions.

Antigens, CD34↗
PubMed1991

Scalp tumours mimicking encephaloceles.

Two neonates presented with benign scalp tumours that mimicked encephaloceles. In the more recent case ultrasonography confirmed that the tumour was extracranial.

Diagnosis, Differential↗
PubMed1993

Nasal endotracheal intubation in a premature infant with a nasal encephalocele.

After a difficult nasal intubation a premature infant leaked cerebrospinal fluid (CSF) from one nostril. After developing bacterial meningitis, the baby was referred for neurosurgical management of the CSF fistula. Transaxial computed tomograms demonstrated a nasal encephalocele, but coronal scans were needed to show the defect in the cribriform plate.

Brain↗