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597 Possible Causes for Cerebellar Hypoplasia, Hyperreflexia, Irritability

  • Arnold Chiari Malformation

    Symptoms of Chiari in babies and children may vary somewhat and can include: Feeding problems including swallowing difficulties, excessive drooling, gagging, vomiting and irritability[migraine.com] Type IV is a form a cerebellar hypoplasia.[hon.ch] “Excessively vigorous adjusting to the upper cervical spine should be avoided, since this can potentially irritate neural structures in an already crowded canal.”[chiro-trust.org]

  • Lymphocytic Choriomeningitis

    The patient's hospital course was notable for hypotension (blood pressure 81/50), irritability, and pancreatitis with a peak lipase of 8,627 U/L.[ncbi.nlm.nih.gov] Physical examination was remarkable only for persistent hyperreflexia and moderate nystagmus on lateral gaze.[doi.org] Some children had isolated cerebellar hypoplasia, with jitteriness as their presenting sign and ataxia as their principal long-term neurological dysfunction.[ncbi.nlm.nih.gov]

  • Globoid Cell Leukodystrophy

    The classic presentation includes excessive irritability, muscle hypertonicity, developmental delay, failure to thrive, peripheral neuropathy, seizures, and optic nerve atrophy[ncbi.nlm.nih.gov] Hyperreflexia. Clonus. Pyramidal paresis of limb or limbs. Extensor plantar responses. Unsteadiness of gait. Psychomotor retardation. Dysphagia. Deafness.[patient.info] The neurological signs differed from those of other feline inborn neurometabolic diseases and cerebellar hypoplasia.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Parkinson Disease 14

    Over 200 mutations have been described (up to May 2015). 28 The phenotype is characterised by early dyskinesia in feet and legs, 29 motor fluctuations, symmetric onset, hyperreflexia[acnr.co.uk] QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR[neuromab.ucdavis.edu] […] characterized by early onset, slow progression, excellent response to levodopa, and variable occurrence of additional features such as dystonia at onset, sleep benefit, hyperreflexia[journals.plos.org]

  • Dysequilibrium Syndrome

    Clinical finding Headaches (often bilateral with throbbing), nausea, muscle cramps, hypertension, irritability, agitation, drowsiness, convulsions.[medical-dictionary.thefreedictionary.com] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] Diagnosis Dialysis disequilibrium syndrome usually occurs during the patient’s first few dialysis sessions. 3 The symptoms of the syndrome include: 3 irritability restlessness[epilepsy.com]

  • Leucine-induced Hypoglycemia

    The classic form presents as a neonate, with the ingestion of dietary protein, with a maple syrup-like odor of cerumen, sweat and urine, irritability, poor feeding, vomiting[genedx.com] […] membrane carnitine transporter deficiency , Propionyl-CoA carboxylase deficiency PCCA type , Short-chain acyl-CoA dehydrogenase deficiency , Short stature-pituitary and cerebellar[en.wikipedia.org] […] various signs and symptoms exhibited by the sufferers of reactive hypoglycemia include: Coma Fatigue Nausea Rhinitis Anxiety Tremors Flushing Dizziness Vomiting Sweating Irritability[hxbenefit.com]

  • Cervical Spondylosis

    This symptom is caused by irritation of a spinal nerve as it leaves the bony (vertebral) area.[patient.info] Eleven patients (58%) had lower limb hyperreflexia or Babinski sign.[ncbi.nlm.nih.gov] Angiography showed two extracranial right vertebral artery (VA) stenoses, left VA hypoplasia, absence of left PICA and a dominant right PICA.[ncbi.nlm.nih.gov]

  • Amish Lethal Microcephaly

    Irritable 0000737 Metabolic acidosis 0001942 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small[rarediseases.info.nih.gov] Flexion contracture Encephalopathy Feeding difficulties Intellectual disability Micrognathia Lactic acidosis Acidosis Muscular hypotonia Respiratory distress Dysphagia Ranula Hyperreflexia[mendelian.co] The single affected individual described by Siu et al [2010] had irritability and profound developmental delay.[ncbi.nlm.nih.gov]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    The presentation is nonspecific, with signs and symptoms such as irritability, lethargy, fever or failure to feed at about one week of age ( Table 1 ).[aafp.org] Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and[ncbi.nlm.nih.gov] hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation[mrineonatalbrain.com]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Sudden uncoordinated muscle movement (cerebella ataxia); abnormal muscle stiffness (spasticity); difficulty walking or standing unaided; irritability; damage to optic nerve[chloesaxby.com.au] Related phenotypes are hyperreflexia and cerebellar hypoplasia[malacards.org] Definition A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia.[uniprot.org]

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