1/36. arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol.We report a case of arthrogryposis multiplex congenita secondary to fetal hypokinesia in a 41-week gestation infant following antenatal central nervous system injury. The mother's pregnancy was complicated by an episode of attempted self harm, with an overdose of co-proxamol at 22 weeks of gestational age, and by the use of cocaine in combination with excess alcohol intake. Magnetic resonance imaging showed bilateral mid-brain cysts and marked atrophy of the basal ganglia and thalami.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
2/36. Severe type II gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.Severe infantile gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively.- - - - - - - - - - ranking = 0.3804560959291keywords = nervous system, brain (Clic here for more details about this article) |
3/36. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.- - - - - - - - - - ranking = 0.50248860879244keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/36. prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome.BACKGROUND: The Cerebro-Ocular-Facio-Skeletal (COFS) syndrome is an autosomal recessive condition characterized by neurogenic arthrogryposis, severe facial anomalies and brain maldevelopment. We describe here the first case of prenatal diagnosis of this syndrome in a 21-week fetus. CASE: The woman was referred to our unit on suspicion of fetal microphthalmia. On trans-abdominal ultrasound, severe bilateral microphthalmia was confirmed. Micrognathia, multiple joint contractures and rockerbottom feet were also detected. On the basis of these findings, the diagnosis of COFS syndrome was hypothesized. After termination of pregnancy, necropsy confirmed all prenatal findings. histology showed severe architectural derangement of the eye and brain together with cerebellar anomalies compatible with the diagnosis of COFS syndrome. CONCLUSIONS: To the best of our knowledge, this represents the first case of prenatal diagnosis of COFS syndrome. This case demonstrates the feasibility of such a diagnosis by ultrasound and identifies the malformations already present and detectable at mid-gestation.- - - - - - - - - - ranking = 0.19900455648302keywords = brain (Clic here for more details about this article) |
5/36. arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation.The natural history of the rare association "multicystic encephalopathy-arthrogryposis" was traced in a fetus carefully followed after artificial insemination. The fetus exhibited normal viability and brain morphology up to the 32nd week. At 36 weeks, active movements diminished and at 37 weeks, hydramnios and signs of fetal distress led to cesarean section. The infant presented with severe arthrogryposis of the limbs and spine, but not with the other elements of a long-lasting akinesia. US showed multicystic encephalopathy. Both the clinical and the neuropathological findings established that multicystic encephalopathy was neither the cause nor the sequential consequence of the fetal akinesia, but the result of a recent diffuse, acute malacic process that also involved the anterior horn cells. Acute fetal distress, responsible for major ischemic damage to CNS but compatible with fetal survival, remains an obscure condition which allows for the development of severe arthrogryposis in a few weeks.- - - - - - - - - - ranking = 0.099502278241511keywords = brain (Clic here for more details about this article) |
6/36. Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence.We report first trimester cystic hygroma colli with subsequent resolution and development of a fetal akinesia deformation sequence. Neuropathological examination of the brain showed intra- and extracellular white matter edema while spinal cord, peripheral nerves and muscles were normal. Hygroma colli as the first echographic sign of subsequent severe fetal akinesia sequence without muscular dystrophy as seen in the Lethal Multiple pterygium syndrome has not been previously reported.- - - - - - - - - - ranking = 0.099502278241511keywords = brain (Clic here for more details about this article) |
7/36. Asymmetric arthrogryposis multiplex congenita with focal pachygyria.A male infant with predominantly right-sided arthrogryposis multiplex congenita is presented. His posture in the lower extremities was asymmetric, and left thoracic scoliosis was present. This patient also manifested focal pachygyria dominantly affecting the contralateral cerebral hemisphere and hypoplasia of the corpus callosum, brainstem, and cerebellar vermis. Generalized tonic seizures began at 2 months of age, and an electroencephalogram revealed epileptic discharge. biopsy of the right biceps revealed a nonspecific change. A direct causal relationship between neuronal migration disorders and arthrogryposis multiplex congenita has not been established, but considering the abnormal neuronal migration along the entire neural axis in focal pachygyria, the predominantly right-sided arthrogryposis in this patient was speculated to be closely related to the pachygyria of the frontal and temporal lobes dominantly affected in the left cerebral hemisphere.- - - - - - - - - - ranking = 0.099502278241511keywords = brain (Clic here for more details about this article) |
8/36. arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than 1% in anoxic-ischaemic damage. Cerebral clastic processes are considered as sporadic. We report on a non-consanguineous family in which the first child was affected by AMC and the following pregnancy was terminated because cerebellum hypoplasia was suspected at ultrasound and confirmed by fetal magnetic resonance imaging. Post-mortem findings demonstrated pontocerebellar ischaemic-haemorrhagic injuries. The occurrence of these neurologic abnormalities in the same family suggests a common mechanism, which might correspond to a same genetic defect with different patterns of expression. This is the first prenatal report suggesting that an 'ischaemic' process, usually recognised as sporadic could in fact be due to an inherited abnormality. Careful prenatal follow-up of third-trimester fetal brain development may be required in pregnant women with a family history of AMC.- - - - - - - - - - ranking = 0.49751139120756keywords = brain (Clic here for more details about this article) |
9/36. Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset.Major akinesia with arthrogryposis and craniosynostosis at birth mimics irreversible disorders of the nervous system of pejorative outcome. In this context, the early detection of anti-acetylcholine fetal receptor antibodies in the mother may allow rapid diagnosis of transient neonatal myasthenia of favorable prognosis.- - - - - - - - - - ranking = 0.18145153944608keywords = nervous system (Clic here for more details about this article) |
10/36. Intrauterine onset of acute neuropathic type 2 gaucher disease: identification of a novel insertion sequence.A subset of patients with type 2 gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most cases death ensues either in-utero or within hours or days after birth. We report on an infant born to non-consanguineous parents of Caucasian origin presenting at birth with hydrops, arthrogryposis, severe respiratory distress, hepatosplenomegaly, and liver failure. death occurred within several hours after delivery and autopsy revealed typical Gaucher cells in multiple organs in combination with severe apoptotic neurodegeneration throughout the brain. beta-Glucocerebrosidase activity was 1% of the norm in fibroblasts and a novel heterozygous insertion c.1515_1516insAGTGAGGGCAAT was identified by genomic sequencing and an insertion-specific seminested PCR. In addition, molecular studies revealed a previously described in type 1 gaucher disease missense mutation c.476G --> A which results in a heterozygous substitution of R120Q. Our observations confirm considerable genotypic heterogeneity in patients with type 2 gaucher disease. The transheterozygous combination of a mutation, previously described in type 1 gaucher disease, together with a newly identified insertion may result in this severe phenotype.- - - - - - - - - - ranking = 0.099502278241511keywords = brain (Clic here for more details about this article) |
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