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32 Possible Causes for Acrocyanosis, Diffuse Hypomyelination

  • Fucosidosis

    Other cutaneous features in this patient included distal transverse purple nail bands, acrocyanosis and a naevus anaemicus.[ncbi.nlm.nih.gov] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] […] pyramidal sign 0007256 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Abnormality of the nail 0001597 Acrocyanosis[rarediseases.info.nih.gov]

  • Cockayne Syndrome

    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]

  • Hypomyelinating Leukodystrophy Type 5

    Autonomic dysfunction (hypolacrimia, hypohydrosis, miosis, acrocyanosis) is possible.[clinicalgate.com] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[ncbi.nlm.nih.gov] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[ajnr.org]

  • Sneddon's Syndrome

    2 patients with Sneddon's syndrome, elevated anticardiolipin antibodies and systemic complications, which included stroke, habitual abortions, cardiac valvular lesions, acrocyanosis[ncbi.nlm.nih.gov] PGM3-CDG Locked-in syndrome Corneal hypesthesia, familial Spinocerebellar ataxia 23 Hereditary diffuse leukoencephalopathy with spheroids CADASIL Optic pathway glioma Binswanger's[checkrare.com] Livedo reticularis and acrocyanosis can be reduced by nifedipine but cannot prevent cerebrovascular complications.[e-aps.org]

  • West Syndrome

    Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis[ncbi.nlm.nih.gov] Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[ncbi.nlm.nih.gov] Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and[findzebra.com] MRI shows hypomyelination, as evident from the diffusely elevated T2 white-matter signal.[clinicalgate.com] During transfusion developed acrocyanosis, hypersalivation, hyperpnoea, BP – 80/40 mm Hg, Ps -120 bpm.[anu4bindu.wordpress.com]

  • Distal Hereditary Motor Neuropathy Type 5

    Other common symptoms and signs include hand tremors, muscle cramps and acrocyanosis. It may be possible to palpate enlarged and excessively firm nerves.[patient.info] Diffuse enhancement of the cauda equina was also depicted in the patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org] A – D, MR images of the lumbosacral spine in a patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org]

  • Hereditary Motor and Sensory Neuropathy

    Other common symptoms and signs include hand tremors, muscle cramps and acrocyanosis. It may be possible to palpate enlarged and excessively firm nerves.[patient.info] Diffuse enhancement of the cauda equina was also depicted in the patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org] A – D, MR images of the lumbosacral spine in a patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org]

  • Bonnemann-Meinecke-Reich Syndrome

    […] acro-fronto-facio-nasal, acro-pectoral, acro-pectoro-renal, acro-renal-mandibular, acro-renal-ocular, acrocallosal, acrocapitofemoral, acrocardiofacial, acrocraniofacial, acrocyanosis[rapsodyonline.eurordis.org] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.es] Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.es]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    May present with purpura, petechiae, acrocyanosis.[autoinflammatory-search.org] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.com]

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