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Fine Upper Lip Weight Loss in Neonatal Period Upper Part of Thorax Narrowed Pachygyria Most Prominent in the Frontal Lobes Poorly Controlled Seizure Dilatation of Virchow Robin Spaces Caused by Mutation in the Ferritin Light Chain Gene Brain Tissue Shows Cavitation of the Basal Ganglia MRI Imaging Shows Cavitation of the Basal Ganglia Dimple Overlying Knee Hypertrophic Labia Minora Severe Developmental Delay May Be X-Linked Jerky Pursuit Movements EMG Shows Neurogenic Findings Hypertrichosis of Eyebrows Narrow Alae Nasi Pear-Shaped Nose Initially Good Response to L-Dopa Onset before Age 40 Years Mutation in the DJ1 Gene Blepharospasm May Occur Neurotic Signs and Symptoms Caused by Mutation in the Alsin Gene No Sensory Abnormalities Absence of Lower Motor Neuron Involvement Cortical Atrophy with Loss of Pyramidal Neurons in the Motor Cortex Pseudobulbar Symptoms (Uncontrolled Laughter, Weeping) Poor Dental Development Small, Concave Nose Caudate Nuclei Atrophy Large Cisterna Magna Progressive Frontotemporal Cerebral Atrophy Active Movements Decreased Regression of Motor Development Onset at Age 6 Months to 2.5 Years Patients Show Normal Psychomotor Development Possibly Afebrile Seizures Later in Life Seizures Usually Occur Less than 3 Times Seizures Usually Last <15 Minutes See Also Erythrocytosis Type 1 Oxygen Affinity of Hemoglobin Normal Increased Red Blood Cell Mass Erythropoietin Normal Excessive Postsurgical Blood Loss Excessive Posttraumatic Blood Loss Mutation in the P2RY12 Gene Platelets Show Normal ADP-Induced Shape Change Platelets May Show Reduced ADP-Binding Activity Platelets Fail to Inhibit the Rise of cAMP Levels in Response to ADP Platelets Show Impaired Aggregation in Response to ADP Early Death due to Sepsis Peripheral Blood Monocytes Increased Monocyte Motility Impaired Abnormally Large Monocytes with Vacuoles Interhemispheric Cysts No Dentinogenesis Imperfecta Birth Length Normal Fracture Frequency Decreased Post Puberty Congenital Fractures Moderate-Severe Bone Fragility Onset in 1st to 3rd Decade of Life Onset in Infancy or Childhood Mutation in the Phospholipase C Epsilon 1 Gene Mutation in the Collagen IX Alpha 1 Polypeptide Gene Irregular Epiphyses Anterior Osteophytes of Thoracic and Lumbar Vertebrae Absent CH50 Activity in Complete C4 Deficiency Most Remit by 6 Weeks Drug-Resistent Seizures Epileptic Encephalopathy with Psychomotor Retardation Motor Automatisms Start with Tonic Posturing Most Remit by Age 2 Months Onset of Seizures at Age 2-8 Days Mutation in the KCNQ3 Gene Risk of Seizures in Childhood or Adulthood Increased Mutation in the Phosphatidylinositol 3 Phosphate 5 Kinase Type 3 Gene Speckled Corneal Dystrophy Absent Peripapillary Choriocapillaris Hypesthetic Cornea Broad Flat Facies Low Weight < 3rd Percentile Obliteration of Sinuses Sclerotic Calvarium Displaced Teeth Bony Paranasal Bossing that Often Regresses with Age Mutation in the Fibroblast Growth Factor Receptor 2 Gene Fusion of Tarsal Bones Medially Deviated Broad Great Toes 15% Cases Are Familial Mean Survival Time: 5 Months Mean Age at Onset for Variant CJD is 29 Years Mean Age at Onset for Sporadic CJD is 60 Years Mutations in the PRNP Gene Occasionally Mild Elevation of Cerebrospinal Fluid Protein Cerebrospinal Fluid Normal Characteristic Periodic EEG Complexes (Sporadic and Familial CJD Not vCJD) Brain PrP-Immunoreactive Amyloid Plaques Diminished Visual Activity