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Scleral Thickening Reye-Like Episode Clinical Presentation Varies Caused by Mutation in the Acyl CoA Dehydrogenase 9 Gene Liver Transaminases Elevated Plasma Ammonia Elevated Cerebellar Stroke Allelic to Goldmann-Favre Syndrome Aperistalsis Minimal Supravalvular Pulmonary Stenosis Minimal Pulmonary Valve Stenosis Visceral Neuromyopathy Variable Terminal Deficiency of Toes Absent Middle and Distal Phalanges (Severe Phenotype) Absent Distal and Absent or Hypoplastic Middle Phalanges Hypoplastic Distal Phalanges (Fingers II-V, Mild Phenotype) Variable Terminal Deficiency of Fingers Mild Hearing Impairment (13%) High Intrafamilial and Interfamilial Variability Nonspecific Leukoencephalopathy Dysarthria (74%) Many Patients Are Asymptomatic Urine Free Cortisol Normal Cortisol-Binding Globulin Decreased Allelic to Naxos Disease Normal Hair (No Wooly Hair) Normal Skin (No Palmoplantar Keratoderma) Prenatal or Perinatal Death See also Autosomal Recessive Form Vast Majority of Heterozygotes Are Asymptomatic Caused by Mutation in the Protein C Gene (PROC) High-Molecular Weight Plasma Factor VIII-VWF Multimers Decreased Platelet Aggregation with Ristocetin Increased Allelic to Autosomal Recessive PXE Female-to-Male Ratio 2-4:1 Onset after Puberty Pitted Perioral Acneiform Scars Hyperkeratotic, Dark Brown Papules Higher Incidence in Females Cerebrovascular Ischemic Attacks Occlusion of Small Arteries Intimal Proliferation of Small Arteries Erythematous Irregular Netlike Pattern of Vessels Transient Cerebrovascular Ischemic Attacks Mutation in the SPG3A Gene Adult-Onset Rarely Reported Onset Usually in First or Second Decade Distal Limb Muscle Weakness and Atrophy Mesomelia Becomes More Evident with Age Lacy Iliac Wings Platyspondyly - Neonate Tooth Eruption Delayed - Primary and Secondary Severe Painful Episodic Superimposed Myoclonic Spasms Release of Platelet Adenosine Diphosphate Impaired Mild Moderate Bleeding Tendencies Mild-Moderate Prolonged Bleeding Time Many Cases Are Asymptomatic Limb Muscle Atrophy Segmental Sensory Loss Especially of Pain and Temperature Touch, Vibration, and Position Sense Possibly Affected Burning Pain in the Limbs Cranial Nerve Anomalies Hyperreflexia - Especially of the Lower Limbs Lethal Micromelic Dwarfism Hemorrhagic Episodes Thrombotic Episodes Increased Thrombopoietin May Occur Homozygotes Have More Severe Disease with Earlier Onset of Thrombosis Onset of Symptoms Usually in Adulthood Caused by Mutation in the F5 Gene Fetal Loss Increased Risk for Preeclampsia Increased Complicated Strabismus Tortuous Retinal Vasculature Allelic to Trichorhinophalangeal Syndrome Type 3 (TRPS3 190351) Allelic to TRP1 Good Response to Steroid Treatment Muscle Biopsy Shows Dystrophic Features No Central Nervous System Abnormalities Abnormal Hippocampus Genetic Heterogeneity - See Familial Temporal Lobe Epilepsy Type 2 Secondary Generalization Deja Vu Feeling Reduced Penetrance (75%) Mean Age at Onset of Migraine is 42 Years Variable Age at Onset of Seizures Olfactory or Auditory Hallucinations Visual Symptoms Absence Seizures Usually Remit by Puberty Absence Seizures Show Onset between 3.5 and 4 Years Febrile Seizures Remit by Age 5 or 6 Febrile Seizures Show Onset between 6 Months and 3 Years 3 Hz Spikes Childhood Absence Seizures Average Age at Onset between 40 and 50 Years Bulbar Spasticity Episodes Last 1 to 2 Days Mutation in the NLR Family Pyrin Domain Containing Protein 3 Gene Rash Possibly Pruritic Episodic Maculopapular Rash