Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.
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PMID:Joubert syndrome: an affected female with bilateral colobomata. 1118 26

A baby boy was born at term by spontaneous vaginal delivery to non-consanguineous parents following an unremarkable pregnancy. He was admitted to his local neonatal intensive care unit shortly after birth following several episodes of eye-rolling, colour change and apnoea. He had bilateral parieto-occipital cephalohaematomata, scattered petechiae and intermittent hypotonia. He was otherwise neurologically normal. A septic screen was completed and antibiotics and aciclovir were given. Cranial ultrasound, cerebral function monitoring and electroencephalography were normal. An echocardiogram demonstrated normal function and intracardiac anatomy but was suspicious for a dysplastic aortic arch and anomalous left pulmonary artery-aorta connection thus he was transferred to the regional paediatric cardiology centre where cardiac CT (figure 1) was undertaken. CT brain (figure 2) was performed simultaneously to delineate the cerebral vascular anatomy but demonstrated an intracranial lesion that accounted for the baby's presentation.edpract;archdischild-2019-317834v1/F1F1F1Figure 13D reconstruction of cardiac CT demonstrates, from this posterior perspective, the course and calibre of the major systemic and pulmonary arteries and venous return.edpract;archdischild-2019-317834v1/F2F2F2Figure 2CT brain was undertaken at the time of cardiac CT to establish the cerebral arterial vascular anatomy. QUESTIONS: What diagnosis was confirmed by cardiac CT?Scimitar syndromePartial anomalous pulmonary venous drainageMajor aortopulmonary collateral arteriesNeonatal pulmonary embolusArterial tortuosity syndromeWhat is the inheritance pattern of this condition?SporadicAutosomal dominant with high penetranceAutosomal dominant with low penetranceAutosomal recessiveX linkedWhich of these features is not associated with this diagnosis?Increased risk of strokePulmonary artery stenosisAbdominal ascitesJoint hypermobilityFacial dysmorphiaWhat abnormality is demonstrated on CT brain?Neonatal strokeSubdural haematomaNormal cranial suturesExtradural haematomaRuptured intracranial dermoid cyst Answers can be found on page 02.
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PMID:Abnormal arterial anatomy and an unexpected intracranial haemorrhage. 3166 88