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Fetal Akinesia - Cerebral and Retinal Hemorrhage Syndrome

LCCS5


Presentation

  • Congenital contracture MedGen UID: 83066 • Concept ID: C0332878 • Congenital Abnormality One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.[ncbi.nlm.nih.gov]
  • Present Absent Intact cortical rim Absent Present Present Present Dilated third ventricle Absent Present only in obstructive forms Absent Absent Angiographic investigation Bilateral internal carotid artery occlusion (not always) Normal Normal Involvement[ijponline.biomedcentral.com]
  • Predominant leg weakness is not unique to ACA infarction; it is also present with MCA-territory cortical infarction. It can also be present with capsular and pontine infarcts.[clinicalgate.com]
  • Even with a severe initial presentation, partial or complete recovery is possible, underlying the importance of early recognition. Antithrombotic treatment must be administered at diagnosis as soon as possible.[karger.com]
  • However, finding the disease causing mutation in the more than 7 million DNA bases within this region has presented an enormous challenge.[news-medical.net]
Death in Infancy
  • […] in infancy Triangular face Everted lower lip vermilion Ichthyosis Abnormality of the liver Microtia Abnormality of the pinna Elevated hepatic transaminase Narrow mouth Progressive neurologic deterioration Primary hypothyroidism Abnormality of the renal[mendelian.co]
  • They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.[molsoft.com]
Sudden Infant Death Syndrome
  • infant death syndrome Cot death Crib death Sudden death of nonspecific cause in infancy 798.1 Instantaneous death 798.2 Death occurring in less than 24 hours from onset of symptoms, not otherwise explained Death known not to be violent or instantaneous[theodora.com]
  • infant death syndrome, susceptibility to 272120 SCN5A sodium channel, voltage-gated, type V, alpha subunit Enf-804 Supranuclear palsy, progressive 601104 MAPT microtubule-associated protein tau Enf-805 Supranuclear palsy, progressive atypical 260540[ac-gen.com]
Respiratory Insufficiency
  • Respiratory insufficiency MedGen UID: 11197 • Concept ID: C0035229 • Pathologic Function Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them.[ncbi.nlm.nih.gov]
  • Affiliated tissues include skeletal muscle and bone , and related phenotypes are respiratory insufficiency and flexion contracture Description from OMIM: 615368 Symptoms via clinical synopsis from OMIM: 57 Respiratory: respiratory insufficiency Prenatal[malacards.org]
  • insufficiency Hypokinesia Short stature Growth delay X-linked recessive inheritance Ptosis Scoliosis Strabismus Cataract Micrognathia Thrombocytopenia Short neck Hepatic failure Hepatomegaly Rare Symptoms - Less than 30% cases Cerebral cortical atrophy[mendelian.co]
  • insufficiency (786.09) acute (518.82) 799.2 Nervousness "Nerves" 799.3 Debility, unspecified Excludes: asthenia (780.79) nervous debility (300.5) neurasthenia (300.5) senile asthenia (797) 799.4 Cachexia Wasting disease Code first underlying condition[theodora.com]
Myopathy
  • […] motor neuropathy Zebra body myopathy[se-atlas.de]
  • , Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore[orphananesthesia.eu]
  • MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX Is also known as myotubular myopathy, x-linked;mtmx;xlmtm, myotubular myopathy 1;mtm1;x-linked myotubular myopathy; xlcnm; xlmtm Related symptoms: Intellectual disability Seizures Generalized hypotonia Pica Scoliosis[mendelian.co]
  • […] dementia and/or amyotrophic lateral sclerosis 3 Frontotemporal lobar degeneration with ubiquitin-positive inclusions Goiter familial due to TTF1 defect Hereditary benign chorea Hereditary motor and sensory neuropathy type IIc - HMSN2C Inclusion body myopathy[agdx.portal.cartagenia.com]
Flexion Contracture
  • Flexion contracture MedGen UID: 3227 • Concept ID: C0009917 • Anatomical Abnormality A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively.[ncbi.nlm.nih.gov]
  • In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia.[nectarmutation.org]
  • Affiliated tissues include skeletal muscle and bone , and related phenotypes are respiratory insufficiency and flexion contracture Description from OMIM: 615368 Symptoms via clinical synopsis from OMIM: 57 Respiratory: respiratory insufficiency Prenatal[malacards.org]
  • […] chain defects Talipes valgus Square face Multiple skeletal anomalies Flexion contracture of finger Ectopic thyroid Thickened cortex of long bones Temperature instability Flexion contracture of toe Abnormal autonomic nervous system physiology Wide nasal[mendelian.co]
Retinal Hemorrhage
  • (Stedman, 25th ed) Retinal hemorrhage MedGen UID: 11210 • Concept ID: C0035317 • Disease or Syndrome Bleeding from the vessels of the retina.[ncbi.nlm.nih.gov]
  • hemorrhage Skeletal: joint contractures thin bones Laboratory Abnormalities: increased serum creatine kinase Neurologic Central Nervous System: intracranial bleeding lack of spontaneous movement Chest Ribs Sternum Clavicles And Scapulae: thin ribs Neurologic[malacards.org]
  • hemorrhage syndrome Fingerprint body myopathy Gardner syndrome Generalized juvenile polyposis/juvenile polyposis coli Hereditary diffuse gastric cancer Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 5 Hereditary motor[se-atlas.de]
  • hemorrhage syndrome 3 Cases 1915 Fetal alcohol syndrome 1.6 BP * 853 Fetal and neonatal alloimmune thrombocytopenia 28.0 P * 853 Fetal and neonatal alloimmune thrombocytopenia 112.5 BP * 294 Fetal cytomegalovirus syndrome 40.0 P * 85212 Fetal Gaucher[azkurs.org]
Fear
  • […] the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system, so that they can provide prompt and informed treatment of neurological disability - the most feared[books.google.com]
  • , Fear of Disease, Fear of Weight Gain, Febrile Convulsion, Febrile Infection, Feeding Disorder, Feeding Disorder Neonatal, Feeding Problem In Child, Feeding Problem In Newborn, Feeling Abnormal, Feeling Cold, Feeling Drunk, Feeling Guilty, Feeling Hot[bonkersinstitute.org]
  • […] cerebral hypoperfusion with spontaneous recover 5 possible causes: Cardiogenic: arrhythmia (VT, VF, AVblock, sick sinus syndrome) Decrease cardiac output (AS, HOCM, myxoma, PE) low flow state (CHF, cardiomyopathy) Non-cardiogenic vasovagal : ppt by fear[ccfpprep.com]
  • […] disorder in which in the daily sleep/wake cycle is delayed with respect to clock time such that sleep occurs well after the conventional bedtime; common in young adults delirium abnormal mental state characterized by disorientation, inattention, confusion, fear[strokecenter.org]
Areflexia
  • Areflexia MedGen UID: 115943 • Concept ID: C0234146 • Finding A finding indicating the complete absence of neurological reflexes.[ncbi.nlm.nih.gov]
  • Accession 1 respiratory insufficiency 32 HP:0002093 2 flexion contracture 32 HP:0001371 3 elevated serum creatine phosphokinase 32 HP:0003236 4 decreased nerve conduction velocity 32 HP:0000762 5 thin ribs 32 HP:0000883 6 polyhydramnios 32 HP:0001561 7 areflexia[malacards.org]
  • Accelerated skeletal maturation EMG abnormality Nephrolithiasis Generalized muscle weakness Waddling gait Arachnodactyly Myopathy Long face Ophthalmoplegia Lower limb muscle weakness Limb muscle weakness Facial palsy Kyphoscoliosis Mandibular prognathia Areflexia[mendelian.co]
  • […] type Congenital nemaline myopathy Constitutional mismatch repair deficiency syndrome Cowden syndrome Cylindrical spirals myopathy DPM3-CDG Dejerine-Sottas syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy-areflexia-respiratory[se-atlas.de]
  • 24 hours procedure used if stroke is caused by atherosclerosis of the carotid artery carodtid endarterectomy also called cervical shock areflexia flexion/extension injuries of the spine are seen most commonly with this MOI whiplash a flexion/rotation[studystack.com]
Areflexia
  • Areflexia MedGen UID: 115943 • Concept ID: C0234146 • Finding A finding indicating the complete absence of neurological reflexes.[ncbi.nlm.nih.gov]
  • Accession 1 respiratory insufficiency 32 HP:0002093 2 flexion contracture 32 HP:0001371 3 elevated serum creatine phosphokinase 32 HP:0003236 4 decreased nerve conduction velocity 32 HP:0000762 5 thin ribs 32 HP:0000883 6 polyhydramnios 32 HP:0001561 7 areflexia[malacards.org]
  • Accelerated skeletal maturation EMG abnormality Nephrolithiasis Generalized muscle weakness Waddling gait Arachnodactyly Myopathy Long face Ophthalmoplegia Lower limb muscle weakness Limb muscle weakness Facial palsy Kyphoscoliosis Mandibular prognathia Areflexia[mendelian.co]
  • […] type Congenital nemaline myopathy Constitutional mismatch repair deficiency syndrome Cowden syndrome Cylindrical spirals myopathy DPM3-CDG Dejerine-Sottas syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy-areflexia-respiratory[se-atlas.de]
  • 24 hours procedure used if stroke is caused by atherosclerosis of the carotid artery carodtid endarterectomy also called cervical shock areflexia flexion/extension injuries of the spine are seen most commonly with this MOI whiplash a flexion/rotation[studystack.com]
Hyporeflexia
  • […] hemorrhage Cerebral calcification Sepsis Decreased testicular size Gliosis Abnormality of skin pigmentation Truncal ataxia Nail dystrophy Carious teeth Small for gestational age Carcinoma Postnatal growth retardation Immunodeficiency Cerebellar hypoplasia Hyporeflexia[mendelian.co]
  • Coma, Hypogonadism, Hypoinsulinaemia Postoperative, Hypokalaemia, Hypokalaemic Syndrome, Hypokinesia, Hypokinesia Neonatal, Hypomagnesaemia, Hypomania, Hypomenorrhoea, Hyponatraemia, Hypophosphataemia, Hypopnoea, Hypoproteinaemia, Hypoprothrombinaemia, Hyporeflexia[bonkersinstitute.org]
  • […] acute inflammatory demyelinating polyneuropathy) acute, ascending, and progressive neuropathy believed to result from an autoimmune response triggered by an antecedent illness or various medical conditions and characterized by weakness, paresthesias , hyporeflexia[strokecenter.org]
  • Other variable features are macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia.[molsoft.com]
Sleep Disturbance
  • -327.49) that of nonorganic origin (307.40-307.49) 780.50 Sleep disturbance, unspecified 780.51 Insomnia with sleep apnea, unspecified 780.52 Insomnia, unspecified 780.53 Hypersomnia with sleep apnea, unspecified 780.54 Hypersomnia, unspecified 780.55[theodora.com]
  • disturbance Vesicoureteral reflux Hypodontia Round face Microcornea Cleft upper lip Highly arched eyebrow Short foot Delayed eruption of teeth Downturned corners of mouth Tooth abscess Polymicrogyria Hypermetropia Short palm Pulmonic stenosis Thin vermilion[mendelian.co]
Intracranial Hemorrhage
  • […] with a history of symptomatic intracranial hemorrhage (ICH) (grade 2C); however, patients who might benefit from antithrombotic therapy are those at relatively low risk of recurrent ICH (eg, with deep hemorrhages) and relatively high risk ( 7% per year[emedicine.medscape.com]
  • hemorrhage Apathy Ectropion Hydrops fetalis Premature loss of teeth Chromosome breakage Elevated pulmonary artery pressure Short finger Ulnar deviation of finger Pathologic fracture Femoral bowing Tibial bowing Metaphyseal widening Cubitus valgus Adducted[mendelian.co]

Workup

  • TIA should be viewed as a medical emergency that necessitates immediate diagnostic workup and treatment.[clinicalgate.com]

Treatment

  • Focused on treatment: key points boxes pick out the most important information for the busy specialist. Evidence-based information: extensively referenced with the latest and most important papers and articles.[books.google.com]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • To identify such ischemic but not yet infarcted tissue virtually defines the goal of modern acute stroke treatment.[mhmedical.com]
  • Anticoagulation is the mainstay of acute treatment for CVT, and short or extended anticoagulant therapy is often used for secondary prevention after CVT, but no clinical trials have studied this use.[emedicine.medscape.com]
  • Treatment For the child with HE who survives, there is debate as to whether or not to perform any surgical treatment, considering the severe brain impairment.[ijponline.biomedcentral.com]

Prognosis

  • PMID: 3344776 Prognosis Guerra MP, Hrachovy RA, Lugli L, Mizrahi EM, Ferrari F Eur J Paediatr Neurol 2007 Sep;11(5):318-21. Epub 2007 Apr 6 doi: 10.1016/j.ejpn.2007.02.004.[ncbi.nlm.nih.gov]
  • Prognosis Unlike to the unilateral form, the prognosis of HE is usually quite poor. Affected patients mostly die in utero. In the survivors, death usually occurs in the first year of life.[ijponline.biomedcentral.com]
  • Assigning a stroke a subtype designation implies an inference about mechanism and natural history, both crucial for treatment and prognosis.[clinicalgate.com]
  • Hall JG: Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). Pathologica 78:701–708, 1986. PubMed Google Scholar 28. Hall JG: Arthrogryposis. Am Fam Physician 39:113–119, 1989. PubMed Google Scholar 29.[link.springer.com]
  • –336 first appearance, 5–6 see also brain; spinal cord cephalic bud, 21 cephalic index (CI), 13 cephalic pole with cyst, 21 cephaloceles causes of, 108, 361 defined, 107, 361 disorders seen with, 108, 361 incidence of, 107, 361 location of, 108, 361 prognosis[assets.cambridge.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology of Ischemic Stroke A.[slideshare.net]
  • Hall JG: Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B-6:159–166, 1997. Google Scholar 32.[link.springer.com]
  • […] biparietal diameter Brachmann-De Lange syndrome, 231–232, 235 brachycephaly, 363 brachysyndactyly, 288 bradyarrhythmias, 467 bradycardia association with CHD, 129 association with maternal collagen vascular disease, 467 concomitant conditions, 136–137 etiology[assets.cambridge.org]
  • The etiologic factors that may give rise to a stroke are many.[neupsykey.com]

Epidemiology

  • Epidemiology Hydranencephaly is a rare neurological condition, but it has been more frequently reported in the literature than the unilateral form, for which only nine cases have been published [ 6 ],[ 7 ].[ijponline.biomedcentral.com]
  • […] clinically defined TIAs are not necessarily transient at the tissue level; there is evidence of tissue infarction on magnetic resonance imaging (MRI) performed early in the course of the syndrome. 2, 3 Indeed, in view of the advances in neuroimaging and epidemiological[clinicalgate.com]
  • ., 32–33 by race, 32–36 major complications, 32 placental changes with, 46 risk factors for, 33, 35 premaxilla, protrusion of, 190 prenatal diagnostic screening, sonographic controversial nature of, 90 epidemiological factors in, 91 factors affecting[assets.cambridge.org]
  • [PUBMED Abstract] Li FP, Fraumeni JF Jr: Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 43 (6): 1365-73, 1969.[cancerinfo.tri-kobe.org]
Sex distribution
Age distribution

Pathophysiology

  • For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases.[orphananesthesia.eu]
  • This article discusses incidence, pathophysiology, imaging, and pain symptomatology involved in the origin of back pain.[worldwidescience.org]
  • Pathophysiology of Ischemic StrokeCEREBRAL AUTOREGULATION• CBF (Cerebral blood flow) determined resistance within cerebral blood vessels• CBF is maintained at constant level despite variations in perfusion pressure.• Smooth muscle contract when CPP increases[slideshare.net]
  • List 3 high-risk features of scaphoid # that require referral to an orthopedic surgeon proximal pole fracture oblique fracture fracture displaced during Tx displaced fracture 1mm 30) Erectile Dysfunction 3 broad pathophysiological categories that may[ccfpprep.com]
  • However, despite these concerns, evidence favors preserving the lacunar infarction stroke category from a pathophysiological standpoint.[clinicalgate.com]

Prevention

  • It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.[ncbi.nlm.nih.gov]
  • Because patients who have had an episode of CVT are more likely to experience new systemic venous thromboembolism than recurrent CVT CVT, it may be generally reasonable to prevent both by adopting venous thromboembolism prevention guidelines.[emedicine.medscape.com]
  • […] acute exacerbations: No, No evidence that abx use prevent exacerbations.[ccfpprep.com]
  • First, all physicians have a role to play in the prevention of stroke by encouraging the reduction of risk factors, such as hypertension, smoking, and hyperlipidemia and the identification of signs of potential impending stroke, such as transient ischemic[mhmedical.com]
  • Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly.[molsoft.com]

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