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3,369 Possible Causes for Autosomal Dominant, Headache, Pediatric Disorder

  • Hereditary Spherocytosis

    However, common complaints such as headache should warn clinicians of involvement in less common sites, primarily the dural venous system.[ncbi.nlm.nih.gov] The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number[touchoncology.com] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[emedicine.com]

  • Cryopyrin-Associated Periodic Syndrome

    Twelve of the 13 patients (92%) had headache, of whom 10 (77%) had features of migraine. Seven patients (54%) had sensorineural deafness.[ncbi.nlm.nih.gov] Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov]

  • Acute Hepatic Porphyria

    AEs in three or more patients included: abdominal pain, headache, nasopharyngitis, nausea and vomiting.[dddmag.com] Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com]

  • Pseudohypoparathyroidism

    She had occasional doubtful seizure and headache for 7 years. Initially clinicians could not reach the diagnosis due to inadequate investigations.[ncbi.nlm.nih.gov] Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism . 4th ed.[pedsinreview.aappublications.org] PHP-Ib familial form, with an autosomal dominant pattern of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an[ncbi.nlm.nih.gov]

  • Hereditary Hemorrhagic Telangiectasia

    […] published by Wiley Periodicals, Inc. on behalf of American Headache Society.[ncbi.nlm.nih.gov] The monoclonal antibody bevacizumab, seems to be a good option in this disorder.[ncbi.nlm.nih.gov] BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[ncbi.nlm.nih.gov]

  • Von Hippel-Lindau Disease

    Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure.[ninds.nih.gov] Praticò and Agata Polizzi, Neurocutaneous Disorders, Textbook of Pediatric Neurosurgery, 10.1007/978-3-319-31512-6_42-1, (1-49), (2018).[doi.org] VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors, including retinal and central nervous system hemangioblastomas, renal cell[ncbi.nlm.nih.gov]

  • Tuberous Sclerosis

    […] the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache[ncbi.nlm.nih.gov] Early diagnosis may reduce morbidity and mortality. tuberous sclerosis complex diagnosis epilepsy seizures neurocutaneous disorders Accepted September 20, 2010.[pediatrics.aappublications.org] In familial cases, TSC is an autosomal dominant disorder, which means that the disorder can be transmitted directly from parent to child.[sharecare.com]

  • Sneddon's Syndrome

    The pain, initially misdiagnosed as atypical trigeminal neuralgia, worsened up to chronic daily and such severely disabling headache that she was constrained to bed.[ncbi.nlm.nih.gov] MS and other acquired demyelinating disorders of the central nervous system.[yoran.office.ehime-u.ac.jp] A small subset of families might have multiple affected members following autosomal dominant inheritance pattern.[ashg.org]

  • Camurati-Engelmann Syndrome

    If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis.[rarediseases.org] Pediatrics 1984 ; 74 : 399 –405. 3 Crisp AJ, Brenton DP. Engelmann's disease of bone—a systemic disorder?[academic.oup.com] Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia.[ncbi.nlm.nih.gov]

  • Hypokalemic Periodic Paralysis

    1: Vesicular lesions on the trunk suggestive of chickenpox Case 2 A 24 year old male presented to emergency with a three day history of high grade fever associated with headache[ispub.com] The disorder has been described most frequently in Asian males.[pediatrics.aappublications.org] Abstract Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease[ncbi.nlm.nih.gov]

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