Sitemap | Symptoma 37701 to 37800 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Progressive Psychomotor Regression Infantile, Late-Infantile, Juvenile, and Adult Onset Reported Variable Severity Correlates with Age at Onset Activity of PPT1 Decreased Electroretinogram Reduced or Abolished Blindness by Age 2 Granular Material in Neurons MRI Shows High Signal Intensity of the White Matter Later MRI Shows Hypointensity of the Thalami Early-On Death at 13 to 30 Years Onset at 4 to 7 Years Ultrastructurally Rectilinear Profiles Characteristic Findings on MRI Neurophysiologic Abnormalities Fever is Often the Presenting Symptom Episodic Severe Fever Lichenification of Palms Thick Calloused Skin Anhidrosis of the Trunk and Limbs 100% of the time Absent Axonal Flare Response to Intradermal Histamine Injection Delayed Wound Healing with Normal Immune System Normal Lacrimation Very Poor Corneal Healing Susceptibility to Rage in 50% of Patients Emotional Lability in 50% of Patients Hyperactivity in 50% of Patients Small Myelinated Nerve Fibers Decreased Small Unmyelinated Nerve Fibers Decreased Diffuse Temperature Insensitivity Diffuse Pain Insensitivity Possibly Predominant Liver Disease Death in the First Decade, Usually due to Liver Failure Pseudo-Acini Microvesicular Hepatic Steatosis Reye Syndrome-Like Episodes Motor Nerve Conduction Velocities Delayed Progressive Sensorimotor Neuropathy Progressive White Matter Lesions in the Brain Rapidly Progressive and Severe Sensory Loss Spasticity Is Slowly Progressive Plasma Total Cholesterol Decreased Plasma Triglycerides Decreased Plasma Apolipoprotein B Decreased Distal Ulceration and Osteomyelitis Leading to Autoamputation MRI Shows Atrophy of Spinal Cord See also: CMT2 with Giant Axons Curly Hair - Not a Consistent Finding Sensory and Motor Axonal Neuropathy Death by Age 3 Years Acid Sphingomyelinase Activity Decreased - Less than 5% Gray, Granular Maculae Cherry Red Maculae Spasticity (Later Symptom) Major Groups: Early-Infantile, Late-Infantile, Juvenile, Adult Caused by Mutation in the NPC1 Gene (NPC1) Fatal Liver Failure in Infancy (Occasional) Mutation in the BUB1B Gene >50% of Mitotic Cells Show PCS Affecting all Chromosomes Combined Immunodeficiency Propensity to Tumor Development Short, Wide Nose Prenatal and Postnatal Growth Retardation Low Postnatal Weight Posterior Fossa Malformations Cerebral Oligogyria Pachymacrogyria Hypoplastic Cerebrum Profound Developmental Delay Short Broad Feet Periumbilical Depression Sacral Segmentation Defect Widely Separated Labioscrotal Folds Genital Labial Hypoplasia Abnormal or Absent Scrotum Lipomyelocystoceles Pupillary Accommodation Decreased SANDO Is a Phenotypic Variant of Autosomal Recessive PEO Onset in Late Teens to Twenties Creatine Phosphokinase Mildly Elevated Myotonic Discharges Muscle Weakness - Upper and Lower Limbs Severe Mitochondrial Myopathy Sensory Nerve Action Potentials Decreased Distal Sensory Loss of Vibration and Proprioception Marked Delay in Epiphyseal Appearance Very Short Long Bones Medial and Lateral Spurs Extreme Platyspondyly Nuchal Edema Dwarfism - Identifiable at Birth Anterior and Posterior Rib Flaring No Nystagmus No Retinal Degeneration Visual Acuity for Distant Vision Ranges from 1/10 to 2/10 as Adult Dyschromatopsia with Red-Green Confusion Moderate Photophobia Isolated Optic Atrophy Subluxed Hand Joints Hearing Loss Sensorineural Progressive Mild Demyelination (Sural Nerve Biopsy)
