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Diagnostiek van dementie in de huisartsenpraktijkPublished by: ACHG | Expertisecentrum Dementie VlaanderenLast published: 2020Diagnostic de la démence en médecine généralePublished by: ACHG | Expertisecentrum Dementie VlaanderenLast published: 2020

Common

Mild cognitive impairment (MCI)

History

activities of daily living intact, functional activities preserved with minimal impairment particularly on complex instrumental activities of daily living

Exam

Folstein MMSE score <24

1st investigation
  • Folstein MMSE:

    <24

    More
Other investigations
  • fluorodeoxyglucose-PET:

    low uptake

    More
  • MRI brain:

    atrophy, vascular lesions, white matter hyperintensities

    More

Delirium

History

rapid onset, short duration, disturbance of consciousness that often waxes and wanes between agitation and lethargy, hallucinations, visual illusions, possible history of infection, metabolic disturbance, or pharmacologic toxicity​

Exam

fever, fluctuating level of cognitive impairment at different hours of the day, inattention, disorganized thinking; physical exam may show deficits congruent with underlying pathology causing the delirium

1st investigation
  • CBC:

    may be WBC >11 x 10³/microliter or <3 x 10³/microliter

    More
  • metabolic panel:

    may be Na >145 mEq/L or <135 mEq/L; K >5.5 mEq/L or <3.5 mEq/L; HCO₃ >30 mEq/L or <22 mEq/L; Cr >1.2 mg/dL; glucose <70 mg/dL (after fasting)

    More
  • chest x-ray:

    in presence of pneumonia: consolidation demonstrated

    More
  • urinalysis:

    may be positive leukocyte esterase, nitrites

    More
Other investigations
  • urine culture:

    may be bacterial or fungal growth

    More
  • delirium screening tool:

    score/criteria indicate possible delirium or cognitive impairment

    More

Depression

History

persistent dysphoric mood, anhedonia (loss of interest in usual activities), impaired recall with relative sparing of recognition memory, poor concentration, sleep and appetite disturbances, energy loss, psychomotor retardation, feelings of worthlessness and guilt, recurrent thoughts of death

Exam

suicidal ideation, problems with attention, concentration, and recent memory

1st investigation
  • clinical diagnosis:

    diagnosis is clinical

    More
  • Folstein MMSE:

    problems with attention, concentration, recent memory

Other investigations

    Alzheimer dementia

    History

    insidious onset, slow progression, memory loss (affecting recent memory first), disorientation in time and place (may manifest as misplacing items or getting lost), difficulty naming objects or people (proper names and low-frequency words decline first); social withdrawal, paranoia, anxiety​

    Exam

    may be normal, especially in early disease; primitive reflexes may be present, rigidity, bradykinesia, abnormal speech and posture; cognitive deficit on screening test​

    1st investigation
    • clinical diagnosis:

      diagnosis is mainly clinical

      More
    • CT/MRI head:

      hippocampal volume loss, atrophy of the medial temporal lobe, posterior cortical atrophy

      More
    Other investigations
    • EEG:

      slowing of background rhythm

      More

    Vascular dementia

    History

    abrupt or stepwise change, gradual cognitive decline after one or more cerebrovascular events (e.g., ischemic hemorrhagic strokes), may be incontinent, depression, delusions, may have transient neurologic symptoms (e.g., hemiparesis, aphasia, or sensory deficits)​

    Exam

    may have hemiparesis, asymmetric deep tendon reflexes, unilateral extensor plantar response, visual field deficits, gait abnormalities, hypertension, dysrhythmias (e.g., atrial fibrillation), carotid bruits, congestive heart failure, diabetes, emotional incontinence (excessive mood lability); cognitive decline on screening test

    1st investigation
    • CT/MRI head:

      ischemic infarction, may show hippocampal volume loss

      More
    Other investigations

      Lewy body dementia

      History

      history of fluctuating cognitive performance, episodes of incoherent speech, variable attention (e.g., well-formed visual hallucinations unrelated to dopaminergic therapy), history of parkinsonism emerging simultaneously with cognitive impairment

      Exam

      muscle rigidity, stooped posture, cog-wheeling, well-formed visual hallucinations, and cognitive fluctuations

      1st investigation
      • CT/MRI head:

        generalized cortical atrophy typical, although may be mild

        More
      Other investigations
      • EEG:

        slowing of background rhythm

        More
      • polysomnography:

        may demonstrate features of REM sleep behavior disorder (RBD), a core clinical feature of Lewy body dementia​

        More

      Uncommon

      Amnestic syndromes

      History

      possible history of alcohol misuse, encephalitis, or head trauma, isolated memory loss without apparent cause​

      Exam

      memory impairment; language and visuospatial ability normal

      1st investigation
      • CT head:

        abnormalities in one or more regions of the brain

        More
      Other investigations

        Aphasia

        History

        acute onset (hours/days), history of transient ischemic attack or stroke

        Exam

        inability to comprehend instructions, repeat words or phrases, or to read, sparse verbal output (lesion of dominant hemisphere), fluent verbal output with word substitutions/paraphasias and impaired comprehension (lesion in Wernicke area), anomia (Alzheimer disease or frontal lobe degenerative dementia)​

        1st investigation
        • CT head:

          focal or diffuse areas of ischemia

        Other investigations

          Frontotemporal dementia

          History

          disinhibition, impulsiveness, social inappropriateness, apathy, withdrawal

          Exam

          disinhibition, lack of executive function, passivity

          1st investigation
          • none:

            disease can often be recognized clinically before changes on routine imaging are apparent

          Other investigations
          • CT/MRI head:

            visualization of focal atrophy in frontal and temporal lobes

          • fluorodeoxyglucose-PET (FDG-PET):

            hypometabolism in frontal and temporal lobar regions

          • Genetic testing:

            typically, mutations in the MAPT, GRN, or C9orf72 genes

            More

          Parkinson disease

          History

          shaking, stiffness, slowness or poverty of movement, anxiety, apathy, falls, hypersomnolence, bowel and bladder dysfunction

          Exam

          tremor at rest, rigidity on passive movement, bradykinesia (slowness of movement), poverty of movement (hypokinesia), orthostatic hypotension, and postural instability

          1st investigation
          • none:

            diagnosis made based on clinical exam findings of resting tremor, bradykinesia, hypokinesia, rigidity

            More
          Other investigations

            Huntington disease

            History

            progressive involuntary movements, neuropsychiatric disturbances, cognitive impairments (e.g., executive function, immediate memory)

            Exam

            involuntary movements, executive function deficits, deficits in visuospatial abilities, short-term and long-term memory deficits

            1st investigation
            • none:

              diagnosis made based on clinical exam and family history

            Other investigations
            • serum genetic testing:

              abnormal trinucleotide CAG repeat sequence

              More

            Brain tumors

            History

            seizures, headache, mental state changes, hemiparesis

            Exam

            visual field deficits, hemiparesis, aphasia

            1st investigation
            • MRI brain:

              presence of a lesion

            Other investigations

              Cushing syndrome

              History

              sudden onset of central weight gain, oligomenorrhea or amenorrhea, spontaneous ecchymoses, florid complexion, difficulty climbing stairs or rising from a low chair, depression

              Exam

              thickening of facial fat (moon facies), facial telangiectasias, enlarged dorsocervical fat pad (buffalo hump), hypertension, violaceous striae on the abdomen or proximal extremities, acne, mild hirsutism, central fat deposition

              1st investigation
              • 24-hour urinary cortisol excretion:

                elevated

                More
              Other investigations
              • dexamethasone suppression test:

                no suppression of cortisol by low dexamethasone doses

                More

              Hypopituitarism

              History

              energy loss, muscle weakness, decreased sweating, anorexia, weight loss or weight gain, abdominal pain, reduction in amount of axillary and pubic hair in women, erectile dysfunction, oligomenorrhea/amenorrhea, breast atrophy, loss of libido, infertility, cold intolerance, dry skin, polyuria, polydipsia, nocturia

              Exam

              may have increased central adiposity, dry skin, reduced muscle mass and strength, visual field defects, circulatory collapse if acute presentation

              1st investigation
              • luteinising hormone (LH):

                low

              • follicle-stimulating hormone (FSH):

                low

              • thyroid-stimulating hormone (TSH):

                low

              • free thyroxine (T4) and free triiodothyronine (T3):

                low

              • basal serum cortisol:

                low

              Other investigations
              • testosterone (in men):

                low

              • estrogen (in women):

                low

                More
              • prolactin:

                low

              • cortisol and growth hormone reserve:

                low

              • CBC:

                anemia

              • metabolic panel:

                hyponatremia, hyperkalemia, hypoglycemia

              • insulin tolerance test:

                reduced growth hormone response

                More
              • urine specific gravity:

                low in diabetes insipidus

              • water deprivation test:

                urine is more dilute after administration of desmopressin

                More

              Primary hyperparathyroidism

              History

              fatigue, lethargy, muscle weakness, depression, cognitive impairment, recurrent kidney stones, mental state changes, abdominal pain

              Exam

              proximal muscle weakness

              1st investigation
              • serum calcium:

                elevated

                More
              • parathyroid hormone (PTH):

                elevated

              Other investigations

                Acute intermittent porphyria

                History

                severe abdominal pain, muscular weakness, constipation, nausea, vomiting, psychiatric disturbances, dark urine, chest pain, back pain, history of exposure to barbiturates, estrogens, sulfonamides, phenytoin, chloramphenicol, tetracyclines, antihistamines, emotional or physical stress, premenstrual, alcohol, smoking

                Exam

                sensory neuropathy, peripheral motor neuropathy, absent reflexes, hypertension, coma

                1st investigation
                • urine aminolevulinic acid:

                  elevated

                  More
                • urine porphobilinogen:

                  elevated

                  More
                Other investigations

                  Primary hypothyroidism

                  History

                  fatigue, cold intolerance, dry skin, hoarse voice, constipation, weight gain, depression, muscle weakness

                  Exam

                  dry skin, muscle weakness, bradycardia

                  1st investigation
                  • thyroid-stimulating hormone (TSH):

                    high

                  • free thyroxine (T4):

                    low

                  Other investigations

                    Hyperthyroidism

                    History

                    weight loss, heat intolerance, restlessness, anxiety, diarrhea, bulging eyes, hand tremor

                    Exam

                    exophthalmos, clammy skin, tachycardia, goiter, high blood pressure

                    1st investigation
                    • thyroid-stimulating hormone (TSH):

                      low

                    • free thyroxine (T4):

                      high

                    • free triiodothyronine (T3):

                      high

                    Other investigations

                      Wilson disease

                      History

                      family history may be positive; symptoms emerging in childhood, adolescence, or early adulthood; tremor, slurred speech, abdominal pain, pruritus, generalized malaise, weakness, weight loss, anorexia, pale stools, dark urine, irritability, depression, easy bruising

                      Exam

                      Kayser-Fleischer rings, parkinsonian-like tremor, rigidity, clumsy gait, poor balance, impaired coordination, abnormal postures, repetitive movements, bradykinesia (tongue, lips, and jaw), dysarthria, dysphonia (hoarse voice), inappropriate and uncontrollable grinning (risus sardonicus), drooling, hypermelanotic pigmentation, bruises, signs of dementia and/or psychosis, jaundice, hepatosplenomegaly

                      1st investigation
                      • serum liver tests:

                        may be normal, elevated aspartate aminotransferase, alanine aminotransferase, direct bilirubin; alkaline phosphatase normal or below normal

                        More
                      • prothrombin time/INR:

                        may be increased

                      • CBC:

                        may be normal; cirrhosis: low platelet count

                      • abdominal ultrasound:

                        nonspecific

                      • serum ceruloplasmin:

                        decreased

                        More
                      • 24-hour urinary copper excretion:

                        elevated

                        More
                      • slit-lamp ophthalmologic exam:

                        Kayser-Fleischer rings present in Wilson disease

                      Other investigations
                      • serum copper:

                        usually decreased, occasionally normal or elevated

                        More
                      • liver biopsy with copper concentration:

                        elevated copper

                        More
                      • genetic testing:

                        positive (pattern of di- and trinucleotide repeats around ATP7B)

                        More

                      Vitamin B12 deficiency

                      History

                      paresthesias, memory loss, gait disturbances; presence of risk factors: age >65 years, history of gastrectomy or gastric bypass, vegan or strict vegetarian diet, chronic gastrointestinal illness, use of proton-pump inhibitors, H2 receptor antagonists, metformin, anticonvulsants

                      Exam

                      ataxia, peripheral neuropathy, decreased vibration sense, positive Romberg test, atrophic glossitis, angular cheilitis

                      1st investigation
                      • serum vitamin B12 (cobalamin):

                        decreased

                        More
                      Other investigations
                      • red cell volume:

                        elevated

                      • homocysteine:

                        elevated

                      • methylmalonic acid:

                        elevated

                      Traumatic brain injury

                      History

                      history of head injury, headache, lethargy, loss of consciousness after head injury (subdural hematoma)

                      Exam

                      altered level of consciousness, slurred speech, hemiparesis (subdural hematoma)

                      1st investigation
                      • CT head:

                        subdural hematoma

                      Other investigations

                        Lyme disease

                        History

                        history of tick bite and rash

                        Exam

                        erythema migrans, fever, headache, myalgias, fatigue, arthritis or arthralgia, facial palsy, peripheral neuropathy​

                        1st investigation
                        • enzyme immunoassay (EIA) or immunofluorescence assay (IFA):

                          positive for antibodies to Borrelia burgdorferi

                          More
                        Other investigations

                          Tuberculosis

                          History

                          history of tuberculosis (TB) contact, cough, weight loss, and night sweats in addition to symptoms of meningitis

                          Exam

                          may be concomitant signs of TB pneumonia, pleural effusion, in addition to signs of meningitis​

                          1st investigation
                          • chest x-ray:

                            may demonstrate atelectasis from airway compression, pleural effusion, consolidation, pulmonary infiltrates, mediastinal or hilar lymphadenopathy, upper zone fibrosis

                            More
                          • sputum acid-fast bacilli (AFB) smear and culture:

                            presence of acid-fast bacilli (Ziehl-Neelsen stain) in specimen

                            More
                          • acid-fast bacilli smear and culture of extrapulmonary biopsy specimen:

                            positive

                            More
                          • nucleic acid amplification tests (NAAT):

                            positive for M tuberculosis

                            More
                          Other investigations
                          • CSF PCR for Mycobacterium tuberculosis:

                            positive in TB meningitis

                          • lateral flow urine lipoarabinomannan (LF-LAM) assay:

                            positive

                            More

                          Neurosyphilis

                          History

                          high risk behaviors including unprotected sexual activity or illicit drug use; infection with HIV or other sexually transmitted infections; nonspecific symptoms; in secondary syphilis: headache, malaise; in neurosyphilis (any stage): meningism, visual changes, hearing loss, seizures, or cognitive impairment; in tertiary (late) syphilis: behavioral changes, gait impairment, incontinence; in congenital syphilis: mother with history of secondary or tertiary syphilis, skin lesions within first 2 weeks of life, rhinitis

                          Exam

                          in primary syphilis: painless genital or oral lesion (chancre), regional lymphadenopathy; in secondary syphilis: rash (often on palms or soles), generalized lymphadenopathy, condylomata lata (usually at sites of skin friction such as perianal and vulval regions and under the breasts), uveitis, patchy alopecia, optic neuritis on fundoscopy exam; in tertiary (late) syphilis: hyporeflexia, anisocoria, cranial neuropathy, motor or sensory deficits with positive Romberg's sign, memory impairment, Argyll Robertson pupils (pupils constrict to accommodate near objects but not to light), locally destructive granulomas (gummas) or glossitis may be present with mucosal atrophy; in congenital syphilis: hepatosplenomegaly; co-infection with HIV may alter the presentation of syphilis

                          1st investigation
                          • nontreponemal serology test (e.g., serum rapid plasma reagin [RPR] test or serum venereal disease research laboratory [VDRL] test):

                            positive

                            More
                          • manual treponemal serology test (e.g., serum Treponema pallidum particle agglutination [TPPA], serum Treponema pallidum hemagglutination [TPHA], serum fluorescent treponemal antibody absorption [FTA-ABS] test):

                            positive

                            More
                          • automated treponemal serology test (e.g., serum treponemal enzyme immunoassay [EIA]):

                            positive

                            More
                          • dark-field microscopy of swab from lesion:

                            coiled spirochete bacterium with a corkscrew appearance and motility

                            More
                          Other investigations
                          • lumbar puncture, cerebrospinal fluid (CSF) analysis:

                            WBC count >10 cells/mm³; CSF protein >50 mg/dL (0.50 g/L); CSF VDRL positive; CSF TPHA/TPPA/FTA-ABS positive

                            More
                          • cranial CT/MRI:

                            generalized cerebral atrophy with ventricular dilation; multiple small infarcts in the basal ganglia; syphilitic cerebral gummas appear as an isodense peripheral mass; may be normal

                            More

                          Systemic lupus erythematosus

                          History

                          fatigue, fever, arthralgia, photosensitivity, Raynaud phenomenon​​

                          Exam

                          arthritis, butterfly rash, hepatomegaly, splenomegaly, cranial neuropathies, peripheral neuropathy​​

                          1st investigation
                          • antinuclear antibodies (ANA):

                            positive

                            More
                          Other investigations
                          • anti-dsDNA antibodies:

                            positive

                          • anti-Sm and anti-RNP antibodies:

                            positive

                          • skin biopsy:

                            noncaseating granulomas

                            More

                          Sjogren syndrome

                          History

                          fatigue, dry eyes, dry mouth, blurred vision, difficulty swallowing food​​

                          Exam

                          conjunctivitis, angular cheilitis, parotid and/or submandibular gland enlargement, distal polyneuropathy​​

                          1st investigation
                          • Schirmer test:

                            reduced tear production

                          Other investigations
                          • slit lamp examination:

                            punctate keratopathy confirms keratoconjunctivitis sicca which indicates a long-standing dry eye

                          • anti-Ro/SSA and/or anti-La/SSB antibodies:

                            positive

                          • skin biopsy:

                            noncaseating granulomas

                            More

                          Sarcoidosis

                          History

                          cough, dyspnea on exertion, chest pain, fatigue, anorexia, weight loss, and fever​​

                          Exam

                          erythema nodosum and polyarthralgias​​

                          1st investigation
                          • chest x-ray:

                            bilateral hilar lymphadenopathy

                          Other investigations
                          • skin biopsy:

                            noncaseating granulomas

                            More

                          Drug use

                          History

                          use of anticholinergic drugs (e.g., antihistamines, drugs for irritable bowel syndrome); some evidence that androgen deprivation therapy may be associated with an increased risk of dementia, but this remains controversial and further investigation is required.

                          Exam

                          may have chronic urticaria (requiring antihistamines)

                          1st investigation
                          • anticholinergic levels:

                            therapeutic range/high

                          • antihistamine levels:

                            therapeutic range/high

                          Other investigations

                            Toxin-induced

                            History

                            ingestion of alcohol, exposure to heavy metals (e.g., arsenic, lead, mercury, carbon monoxide, and cyanide)

                            Exam

                            tremor, hepatomegaly, gynecomastia (in alcohol misuse), abdominal pain, mood disorder (in lead poisoning)

                            1st investigation
                            • urine heavy metal screen:

                              elevated levels of heavy metal

                            • gamma-glutamyltransferase (GGT):

                              elevated in alcohol misuse

                            Other investigations

                              Normal pressure hydrocephalus

                              History

                              headache, balance disturbances, urinary incontinence

                              Exam

                              unstable gait, slow movement, wide-based stance

                              1st investigation
                              • CT head:

                                hydrocephalus

                              • lumbar puncture:

                                normal, opening pressure 70 to 250 mm H₂O

                                More
                              Other investigations

                                Creutzfeldt-Jakob disease

                                History

                                rapidly progressive dementia, characterized by memory loss, personality changes, and hallucinations

                                Exam

                                visual impairment, speech impairment, development of akinetic mutism, myoclonus, ataxia, and seizures

                                1st investigation
                                • EEG:

                                  characteristic triphasic spikes

                                Other investigations
                                • CSF analysis (lumbar puncture):

                                  14-3-3 protein detected; total tau (T-tau) protein elevated; neuron-specific enolase elevated

                                • MRI brain:

                                  often demonstrates hyperintensity in the cerebral cortex (cortical ribboning), basal ganglia (caudate and putamen), and thalamus on diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) sequences, and hypointensity (restricted diffusion) on attenuated diffusion coefficient map (ADC) sequences

                                • MRI brain using diffusion-weighted imaging:

                                  cortical and subcortical hyperintensities

                                  More
                                • brain biopsy:

                                  dead neurons and abnormal prion proteins; brain tissues have many holes giving the brain a spongy appearance

                                  More

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