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18 Possible Causes for Diffuse Hypomyelination, High Pitched Voice

  • Congenital Muscular Dystrophy

    Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com] Patients with MEB show cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and cerebellar vermian[neurologyindia.com]

  • Cockayne Syndrome

    ., DNA repair profile, hearing loss, optic nerve atrophy, a high-pitched voice, ataxia, delayed pubertal development).[ojrd.biomedcentral.com] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Woodhouse Sakati Syndrome

    The physical characteristics include: normal facial features, childlike high pitched voice, proportioned body, and abnormal genitalia.[howlingpixel.com] Brain MRI showed diffusely increased periven-tricular white matter and centrum semiovale signal intensities onT2 images, suggestive of white matter hypomyelination, but wasotherwise[docslide.com.br] Dysarthria (often with a high-pitched voice) and dysphagia are common. In a majority of individuals, dystonia becomes generalized and disabling ( Figure 1B, 1F, 1H ).[ncbi.nlm.nih.gov]

  • Bonnemann-Meinecke-Reich Syndrome

    pitched voice Myotonia Blepharospasm Phimosis Skeletal muscle hypertrophy Mask-like facies Overfolded helix Abnormality of the urinary system Elbow dislocation Narrow palpebral[mendelian.co] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.es] […] system physiology Malignant hyperthermia Abnormal eyebrow morphology Abnormality of the ureter Sprengel anomaly Increased number of teeth Hip contracture Spinal rigidity High[mendelian.co]

  • Helsmoortel-van der Aa Syndrome

    The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com] : Diffuse; Progressive Putamen: Small or Absent Head of the caudate: Reduced size Cerebellar atrophy: Especially granular layer Hypomyelinating Leukodystrophy 9 (HLD9) Arginyl-tRNA[neuromuscular.wustl.edu] Atrophy: Diffuse Spastic Ataxia with Optic Atrophy (SPAX4) 78 Poly(A) RNA polymerase, mitochondrial (MTPAP; PAPD1) ; Chromosome 10p11.23; Recessive Epidemiology: Old Amish[neuromuscular.wustl.edu]

  • Ichthyosis and Male Hypogonadism

    High-pitched voice is present only in men with Kallmann syndrome or congenital idiopathic hypogonadotropic hypogonadism.[emedicine.medscape.com] Sasaki M, Takanashi J, Tada H, et al: Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009; 31: 582-587.[plaza.umin.ac.jp] 図4 4H syndrome (HLD8) ないしDiffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC) 20歳代男性、発達遅滞、性腺機能低下を呈し、POLR3B遺伝子異常を認める。[plaza.umin.ac.jp]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    ., DNA repair profile, hearing loss, optic nerve atrophy, a high-pitched voice, ataxia, delayed pubertal development).[ojrd.biomedcentral.com] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[checkorphan.org]

  • Perinatal Lethal Gaucher Disease

    […] result in feeding difficulties; abnormal positioning or bending of the neck (retroflexion); and failure to gain weight and grow at the expected rate (failure to thrive) and high-pitched[rarediseases.org] […] with ichthyosiform erythroderma and limb defects childhood apraxia of speech , see FOXP2-related speech and language disorder childhood ataxia with central nervous system hypomyelination[elbiruniblogspotcom.blogspot.com] […] breathing (stridor) due to contraction of the muscles of the voice box (laryngeal spasm).[rarediseases.org]

  • Neurodegeneration with Brain Iron Accumulation

    Dysarthria (often with a high-pitched voice) and dysphagia are common. In a majority of individuals, dystonia becomes generalized and disabling ( Figure 1B, 1F, 1H ).[ncbi.nlm.nih.gov] hypomyelination on MRI Spastic paraplegia 11 SPG11 AR Spastic paraparesis Mild cognitive delay Cerebellar & bulbar involvement Periventricular white matter abnormalities[ncbi.nlm.nih.gov] hypomyelination, atrophy of caudate & putamen, preservation of globus pallidus on MRI POLR3-related leukodystrophy POLR3A POLR3B POLR3C AR Spasticity Tremor Extrapyramidal[ncbi.nlm.nih.gov]

  • Hypodontia

    pitched voice [29] .[wikigenes.org] MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure[ncbi.nlm.nih.gov] […] therapeutic context of HYD2 We report a 20 year old man with short stature, microcephaly , unusual facies , numerous pigmented naevi, hypodontia , immunodeficiency, and a high[wikigenes.org]

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