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Cholesterol Normal to Slightly Increased Tendon Xanthomas Spinal Cord Paresis Elevated Scapulae Occasionally Misdiagnosis of Down Syndrome Death Usually in First Year of Life Plasmalogen Decreased Iron and Iron-Binding Capacity Increased Long-Chain Fatty Acids Increased Dihydroxyacetone Phosphate Acyltransferase Activity Decreased Stippled Epiphyses (Patellar and Acetabular Regions) Pyloric Hypertrophy Absent Liver Peroxisomes Absent Renal Peroxisomes Limited Range of Neck Motion Ankyloblepharon Filiform Rapid Progression to Disability Mutation in the GDAP1 Gene Kyphoscoliosis May Occur Inability to Walk by Childhood or Adolescence May Progress to Involve Proximal Muscles May Be Same Entity as Elejalde Syndrome Leukocytes with Giant Inclusion Bodies Erythrophagocytosis in Late Phase Generalized Lymphohistiocytic Infiltrates in Late Phase Lymphadenopathy in Late Phase Neutrophil and Monocyte Migration and Chemotaxis Decreased Normal B Cell Function Absent Natural Killer Cell Cytotoxicity Recurrent Cutaneous and Systemic Pyogenic Infections Pseudomembranous Sloughing of Buccal Mucosa Progressive Peripheral Neuropathy Giant Granules in Schwann Cells Diffuse Brain and Spinal Cord Atrophy (CT or MRI) Nerve Conduction Velocities Severely Decreased Progressive Intellectual Decline Onset of Cholestatic Jaundice at 2-4 Weeks of Age - Resolving during Childhood Onset of Lymphedema before Puberty Infantile Malabsorption Inactivating Mutations in the PTH1R Gene Mutations in the Parathyroid Hormone Receptor 1 Gene Square Ilia Advanced Skeletal Maturation Generalized Sclerosis Severe Midface Hypoplasia Death at Birth or Shortly after Birth Anterior Rib Widening Majority of Children Die before Age 2 3-Oxoacyl-CoA-Thiolase Unprocessed Acyl-CoA:Dihydroxyacetonephosphate Acyltransferase Deficiency Plasmalogen Deficiency Epiphyseal Calcification Disappearance of Stippling in First Year of Life Severe Delay in Myelination Mutation in the Lamin B Receptor Moth-Eaten Fragmented Long Bones Punctate Calcifications in Iliac Apophysis, Ischium and Pubis Platyspondyly with Multiple Extra Ossification Centers Mutation in the Collagen XI Alpha 2 Polypeptide Gene Recurrent Pulmonary Infections Wide, Flat Epiphyses Absent-Small Capital Femoral Epiphyses Enlarged Joints Square Iliac Wings Anterior Vertebral Wedging Enlarged Odontoid Process Vertebral Coronal Clefts (Newborn) No Ocular Symptoms Mutation in the ASS Gene Hepatic Argininosuccinate Synthetase Deficiency Citrulline Increased (1-5 mM) Sparse Eyelashes and Eyebrows Aplasia or Hypoplasia of the Nails Short Tapering Toes Association of Cardiac Events with Exercise Onset Possibly in Early Infancy, Adolescence, or Adulthood Onset Usually in Late Infancy or Childhood Mutation in the EIF2B2 Gene Possibly Blindness Cessation of Head Growth in Affected Infants MRS Shows Decreased Creatine in White Matter Decreased Choline in Affected White Matter (MRI) Decreased Amount of Myelin Specific Lipids Amount of Myelin-Specific Proteins Decreased White Matter Rarefaction and Cystic Degeneration Biopsy: Foamy Lipid Laden Macrophages Severe Leukoencephalopathy Mild Mental Decline Developmental Regression in Affected Children Mutations in the Caspase 10 Gene Vasculitic Rash Anti-Factor VIII Antibodies Anti-SSB Positive Antiribonuclear Protein-Positive Phospholipid Antibody Positive Levels of IgG Increased Proportion of HLA-DR+ and CD57+ T Cells Increased B-Cell Count Increased Number of Peripheral CD3+ T Cells Increased Chronic Non-Infectious Lymphadenopathy