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​Symptoms and Signs – Differential Diagnosis of Multiple Sclerosis (MS)
• Autoimmune: acute disseminated encephalomyelitis (ADEM), postvaccination encephalomyelitis
• Degenerative: subacute combined degeneration (vitamin B12 deficiency), inherited spastic paraparesis
• Infections: progressive multifocal leukoencephalopathy, Lyme disease, syphilis, HIV infection, human T-cell lymphotropic virus type 1 (HTLV-1), Whipple’s syndrome, expanded differential in immunocompromised patients
• Inflammatory: systemic lupus erythematosus (SLE), Sjögren’s syndrome, Behçet’s syndrome, vasculitis, sarcoidosis, celiac disease
• Inherited metabolic disorders: leukodystrophies
• Mitochondrial: Leber’s hereditary optic neuropathy; mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
• MS variants: recurrent optic neuropathy, neuromyelitis optica (Devic’s), acute tumor-like lesion (Marburg’s variant), Baló’s concentric sclerosis, myelinoclastic diffuse sclerosis (Schilder’s disease)
• Neoplasms: metastases, CNS lymphoma
• Vascular: subcortical infarcts, Binswanger’s disease
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​Symptoms and Signs – Differential Diagnosis of Microcephaly
• Syndromes: Down (21 trisomy), Edwards (18 trisomy), cri du chat (5p−), Cornelia de Lange, Rubinstein-Taybi, Smith-Lemli-Opitz
• Radiation
• Metabolic
• Meningitis/encephalitis
• Malnutrition
• Hypoxic-ischemic encephalopathy
• Hyperthermia
• Familial (autosomal recessive)
• Drugs: fetal alcohol, fetal hydantoin
• Congenital infections: cytomegalovirus (CMV), rubella,toxoplasmosis
• Autosomal dominant
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​Symptoms and Signs – Differential Diagnosis of Microcytosis
• Thalassemia trait or syndrome, other hemoglobinopathies
• Sideroblastic anemia
• Lead poisoning
• Iron deficiency
• Chronic renal failure
• Anemia of chronic disease
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​Symptoms and Signs – Differential Diagnosis of Micropenis
HYPOGONADOTROPIC HYPOGONADISM
• Kallmann’s syndrome: autosomal dominant; associated with hyposmia
• Prader-Willi syndrome: hypotonia, mental retardation, obesity,
small hands and feet
• Rud’s syndrome: hyposomia, ichthyosis, mental retardation
• de Morsier’s syndrome (septo-optic dysplasia): hypopituitarism,hypoplastic optic discs, absent septum pellucidum
HYPERGONADOTROPIC HYPOGONADISM
• Primary testicular defect: disorders of testicular differentiation or
inborn errors of testosterone synthesis
• Klinefelter’s syndrome
• Other X polysomies (i.e., XXXXY, XXXY)
• Robinow’s syndrome: brachymesomelic dwarfism, dysmorphic facies
PARTIAL ANDROGEN INSENSITIVITY
• Idiopathic
• Defective morphogenesis of the penis
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​Symptoms and Signs – Differential Diagnosis of Mild Cognitive Impairment
• Vitamin B12 deficiency
• Subdural hematoma
• Reversible CNS conditions
• Normal-pressure hydrocephalus
• Metastatic disease
• Medication related (anticholinergics)
• Hypothyroidism
• Depression
• Dementia
• Delirium
• “Reversible” cognitive impairment
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​Symptoms and Signs – Differential Diagnosis of Miosis
• Neurosyphilis
• Medications (e.g., morphine, pilocarpine)
• Iritis
• Inflammation/irritation of cornea or conjunctiva
• Congenital
• CNS pontine lesion
• CNS infections
• Cavernous sinus thrombosis
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