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At least 1,225 records · Page 68Linked to original sources
PubMed2007

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

BACKGROUND: The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and presacral masses. Mutations in the homeoboxHLXB9 gene have already been described in a subset of sacrococcygeal anomalies characterized by partial sacral agenesis. CASE: We report a 28-year-old male patient with Currarino syndrome due to a heterozygous novel frame-shift mutation c.336dupG (p.P113fsX224) in the homeoboxHLXB9 gene. CONCLUSIONS: Molecular diagnostics may be helpful in cases of Hirschsprung's disease accompanied by other symptoms suggestive for Currarino syndrome, since it can lead to major complications such as perianal sepsis, meningitis, and malignant transformation.

Abnormalities, Multiple↗
PubMed1982

Diagnosis and treatment of spontaneous cerebrospinal fluid otorrhea.

Two consecutively operated-on adult cases with spontaneous cerebrospinal fluid otorrhea were reviewed. Three meningoencephaloceles through tegmental defects were found. Each cele was peduculated through a small dural dehiscence partially obstructed by herniated brain. The otic capsule was normal in both cases. Bipolar cautery was used to reduce the size of the meningoencephalocele and to allow this tissue to assist in the closure of the defect. Conchal cartilage was placed through the tegmental defect to act as a self maintaining intracranial repair of the bony dehiscence. These cases and the literature suggest that fistulization of dura is more frequently the cause of spontaneous cerebrospinal fluid otorrhea in adults than is a defect in the otic capsule. Thus, direct surgical inspection of these areas is required.

Adult↗
PubMed1989

False-negative amniotic fluid acetylcholinesterase in a case of meningo-encephalocele.

We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.

Acetylcholinesterase↗
PubMed1993

Prenatal diagnosis of exencephaly.

This paper presents a sonographic diagnosis of exencephaly made during the last trimester of gestation. The sonogram showed the absence of bones in the cranial vault together with the presence of a disorganized cerebral mass, with loss of its normal anatomy. Post-partum examination of the newborn confirmed the findings of the sonogram. We briefly review the characteristics of exencephaly, its aetiology, and its relationship to anencephaly.

Adult↗
PubMed1993

Magnetic resonance imaging of the fetus: a study of 20 cases performed without curarization.

Twenty patients underwent magnetic resonance imaging (MRI) at a mean gestational age of 32 weeks. There were 12 patients with suspected fetal brain abnormality and four with intrauterine growth retardation (IUGR), while the remaining four cases were studied for other reasons. The MRI examinations were performed on a 0.5 Tesla machine, with surface coils. One minute acquisition time T1 sequences were used. All the studies were performed without fetal curarization, and only under maternal sedation using flunitrazepam given per os 1 h before MRI examination. Three examinations were incomplete because of fetal movement artefacts. In the remaining cases, MRI allowed the examination of fetal brain anatomy. In five cases, it helped to differentiate isolated hydrocephalus and corpus callosum agenesis. Sub-ependymal nodules were depicted in a case of fetal tuberous sclerosis. One suspected arachnoid cyst was proved to be an ultrasound artefact. Decreased fetal fat on MR images was correlated with low birth weight in cases of IUGR. Due to its better spatial resolution, ultrasonography was more accurate for the diagnosis of facial and lumbar anomalies. Fetal MRI may be performed without curarization. Surface coils allow the detailed analysis of brain parenchyma, and thus MRI is especially useful in the difficult prenatal diagnosis of fetal brain abnormalities.

Adipose Tissue↗
PubMed1993

The early diagnosis of neural tube defects.

The sonographic diagnosis of fetal neural tube defects (NTDs) has been enhanced by the recognition of associated brain and skull anomalies. Previous reports have found these anomalies to be accurate in predicting spina bifida after 16 weeks' gestation, and an inverse correlation was suggested between the presence of these sonographic markers and gestational age. Therefore, we assumed that early second-trimester sonography would be at least as accurate as that performed after 16 weeks' gestation. To examine this hypothesis, we looked for the presence of these cranial sonographic markers suggestive of open NTDs in 8011 low-risk cases, using transvaginal sonography (TVS), between the 12th and 17th week of gestation (menstrual age). Fetal NTDs were identified in ten cases (1.25/1000). The NTDs were cervico-cranial in three, lumbo-sacral in six, and thoracal in one of the ten cases. None of the seven cases examined was dyskaryotic. Cerebellar dysmorphism, 'banana' sign, cerebellar absence, and hypoplasia were detected in all the low NTDs, usually before the detection of the spinal lesion. All the sonographically diagnosed malformations were confirmed by post-abortal examination except in one case, where the patient decided to continue the pregnancy and refused follow-up. We therefore conclude that transvaginal sonographic examination of the fetal skull before the 17th week of gestation is an accurate method for the detection of low NTDs.

Abortion, Therapeutic↗
PubMed1994

Syndromes identified in fetuses with prenatally diagnosed cephaloceles.

An evaluation of all fetuses from our institution with prenatally diagnosed cephaloceles was conducted to determine the frequency and spectrum of genetic syndromes associated with this abnormality. Review of the sonographic images, postnatal autopsy or pathology reports, delivery room records, paediatric neurosurgical findings, radiographs, and cytogenetic data were collected. Fifteen postnatally confirmed cases of prenatally diagnosed cephaloceles and two misdiagnosed cases were identified. Thirteen were midline occipital lesions, one was frontoparietal, and one was frontoethmoidal. Excluding microcephaly, hydrocephaly, and distortion of intracranial anatomy, 9 of 15 (60 per cent) had other associated anomalies, including two fetuses with aneuploidy. The prenatal diagnosis of a cephalocele should initiate a thorough search for other abnormalities. In this series, there were three multifactorial, two chromosomal, two sporadic, and two autosomal recessive syndromes identified. An accurate diagnosis is critical in determining the prognosis and providing appropriate genetic counselling.

Abnormalities, Multiple↗
PubMed1984

Pitfalls in the diagnosis of neuroblastoma by 99mTc-MDP scintigraphy: a case report.

A routine bone scan was performed on an infant presenting with abdominal mass. Initially, the stasis of activity in the right ureter, which was compressed by a large abdominal meningocoele, was mistaken for activity in a neuroblastoma. A subsequent kidney scintigram led to the correct interpretation. The misinterpretation of abdominal 99mTc-MDP accumulation can be prevented by the correlation of bone and kidney scintigrams. In this way, the correct site of the radiopharmaceutical concentration can be assessed, and the damage caused by any kind of abdominal mass to the compressed urinary tract and kidney can be assessed.

Abdominal Neoplasms↗
PubMed1989

Congenital dermoid cysts over the anterior fontanel. Report on 13 cases in Czechoslovak children.

The authors report on 13 cases of dermoid cysts over the anterior fontanelle in Czechoslovak children. These children were 2-19 months of age; with a male-to-female ratio of 2:1. The cyst sizes ranged from 10 to 30 mm. Hence, the number of cases published in the world so far in children has increased to 174. Simultaneously, the number of European cases has increased to 30 (17.2%). Nevertheless, the dominance of the reported cases is still 74 in America (42.5%) and 45 in Africa (25.9%).

Dermoid Cyst↗