History and Physical — Patient 24


Patient #24 is a nine year old Colombian male with a progressive encephalopathy. One year ago, his parents noted a change in his concentration and attention. The patient began to perform poorly in school around this time. He was initially evaluated by a psychiatrist, diagnosed with Attention Deficit Hyperactivity Disorder (ADHD), and placed on Ritalin without improvement. Two months prior to our evaluation, the patient developed progressive problems with gait and balance with frequent falls (characterized by sudden loss of tone), nocturnal enuresis, and mental decline. He became withdrawn and irritable and showed slow mental processing. His condition continued to worsen over the next several weeks. He lost his ability to walk and began to demonstrate occasional jerking of his proximal extremities. He also began to experience frequent, daily, brief "staring" episodes associated with a brief cessation of activity.

There was no history of fever, chills, night sweats, weight loss, toxin exposure, or recent travel.

Past Medical History: Right eye amblyopia and optic nerve hypoplasia diagnosed in early childhood; Chicken pox at four years of age; Immunizations: up to date with initial MMR at 13 months of age (during a period of a measles epidemic)

Past Surgical History: None.

Allergies: No known drug allergies.

Medications: Ritalin.

Family History: Unknown.

Social History: The patient was adopted by North American parents when he was 6 months old. He periodically lived in Saudi Arabia for the past 2-3 years. He recently moved to Texas from New Mexico in June of 1997.

Physical Exam

General: Well developed, well nourished Latin American male who appears his stated age.

Vital Signs: B.P. 82/64; pulse 94; temperature 97.8 F; respiration 16.

HEENT: No dysmorphic features; Normocephalic, atraumatic; sclerae clear, conjunctivae pink; oropharynx clear and moist; neck supple without lymphadenopathy or thyromegaly.

Chest: Clear to auscultation and percussion bilaterally; normal respiratory excursion.

Cardiovascular: Normal cardiac exam with normal S1 and S2; no rubs, gallops, or murmurs.

Abdomen: Soft, nontender, nondistended; no organomegaly.

Extremities: No cyanosis, clubbing, or edema.

Skin: Normal pigmentation; no significant hyper- or hypo- pigmented lesions.

Genitourinary: Tanner stage 1 male.

Neurological Examination

Mental Status:



Level of ConsciousnessFluctuating; he was alert but had frequent episodes of staring associated with cessation of speech and other activity lasting less than five seconds.
LanguageMinimal spontaneous speech production; speech appears fluent but dysarthric, and he demonstrated significant slowing in mental processing especially with comprehension tasks; poor expressive prosody; syntax is intact; reading and writing impaired for age.
MemoryOriented to person, place, city, year, and month only; unable to recall three words at five minutes.
CalculationsImpaired calculation ability for age.


Cranial Nerves:

Cranial Nerves


INot tested.
IIVisual acuity 20/800 OD with right optic atrophy; 20/30 OS; visual fields intact; pupils 6mm and reactive (sluggish on right).
III / IV / VIEOMI; no diplopia; no skew deviation; no nystagmus; no ptosis.
VNormal sensation to light touch and pain throughout; masseter and temporalis intact.
VIISmile symmetrical.
VIIIHearing intact bilaterally.
IX / XPalate elevates in midline XI SCM and trapezius strength intact bilaterally.
XIITongue midline.


Motor: Tone was increased throughout with prominent cogwheel rigidity. Muscle bulk was normal. There was no rest tremor, but the patient demonstrated occasional myoclonic jerks of the shoulders and upper extremities. Bilateral strength testing of both the upper and lower extremities was 4.

Reflexes: Bilateral 3+ for upper and lower extremities. Bilateral Hoffman and Babinski signs were present; Pt. demonstrated bilateral crossed adductors.

Sensation: Grossly intact to all modalities; pt. was unable to cooperate with cortical sensory testing.

Cerebellar: There was an intention tremor bilaterally with dysmetria on finger-nose-finger and heel-shin.

Gait: Unable to stand due to severe ataxia and loss of postural tone.

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