History and Physical — Patient 41


Present Illness: This is the case of a 13 year old Middle Eastern boy who began experiencing dystonia of the foot with walking, at about the age of 5 years. This involuntary inward turning of the feet, as it was described, resulted in an awkward gait, but was painless. No medical evaluation was sought at this point. By the age of 10 years, he began experiencing similar symptoms in his right hand, again described as involuntary and painless contractions. These movements were initially task-specific, appearing only when attempting to write, but later came to involve all tasks utilizing the right arm. Approximately 1 1/2 years later, the left hand was similarly affected, and the patient was brought to medical attention. At the local hospital, an MRI scan of the brain was reported to be negative. The patient was treated with Sinemet 25/100, three times per day, resulting in modest improvement in his symptoms. At the time of his evaluation at Baylor College of Medicine/Texas Children's Hospital, he had not subsequently developed cognitive dysfunction, additional extrapyrmidal features, or any other neurologic symptoms. There is no history of any exposure to chemicals, toxins or neuroleptic agents.

Past Medical History: Unspecified visual difficulties for several years. Progressive generalized alopecia over the past 4-5 years.

Past Surgical History: None.

Allergies: No known drug allergies.

Medications: Carbidopa/levidopa 25/100 b.i.d.; trihexyphenidyl 2 mg b.i.d.

Family History: First degree consanguinity of parents. The patient's father is 48 years old and healthy. The patient's mother is 39 and is reported to have suffered from "stiffness of her hands and arms" since age 13. The patient has three sisters, ages 19, 9, and 3 years, and two brothers, ages 11 and 5 years. The oldest sister suffers from severe generalized dystonia resulting in severe functional impairment since age 12. This sister also had severe cognitive impairment, alopecia, and masculine body habitus. The youngest sister also suffers from alopecia, but otherwise appears normal. The other siblings are healthy. There is no other family history of any neurological illness.

Social History: The patient resides in a Middle Eastern nation with his parents. He is in the 8th grade of school, and is reportedly doing well. Standard immunizations are up to date.

Physical Exam

General: The patient is a shy but cooperative Middle Eastern boy who appears younger than his stated age.

Vital Signs: B.P. 111/68 mmHg in sitting position; pulse 70/min; temperature 98.4 F.

HEENT: Normocephalic, no evidence of trauma. Nasal passages and oropharynx clear.

Neck: Supple, no lymphadenopathy, thyromegaly or masses. No jugular venous distension.

Chest: Clear to auscultation and percussion bilaterally.

Cardiovascular: Regular rate and rhythm with no murmurs or gallops.

Abdomen: Soft, nontender, nondistended; no masses or organomegaly. Bowel sounds present.

Extremities: Dystonic posturing of both arms, more pronounced on the left than on the right. No cyanosis or peripheral edema.

Skin: No jaundice, abnormal pigmentation or skin lesions. Mild generalized thinning of scalp hair.

Neurological Examination

Mental Status: The patient was alert and aware of his environment, and oriented to person, place and date/day of the week. He was well-groomed, but shy and withdrawn. His affect was pleasant with appropriate mild anxiety. Speech was fluent and nondysarthric with normal comprehension. Inability to speak English limited full investigation of mentation, but with the assistance of a translator, no gross abnormalities of function were evident.

Cranial Nerves:

Cranial Nerves


INot tested.
IIVisual acuity 20/70 (right) and 20/40 (left). Left optic disc pallor evident on fundoscopic examination, with blurred disc margins and prominent vasculature. Pupils round, equally reactive to light and accommodation.
III / IV / VIBilateral spontaneous horizontal nystagmus noted in all positions of gaze. Gaze was conjugate, with full range of extraocular movements.
VNormal facial sensation and strength of muscles of mastication bilaterally.
VIISymmetric face with normal muscle strength. No facial dystonia noted.
VIIIHearing intact to finger rubbing bilaterally.
IX / XPalate, uvula midline, elevated normally.
XINormal trapezius and sternocleidomastoid strength bilaterally.
XIITongue protruded midline, with no weakness, atrophy, or fasciculations.


Motor: Normal bulk with mildly increased tone bilaterally. Dystonic posturing was noted in both hands, worse on the left, worsening with walking and with attempts at writing. Overflow dystonia was also provoked in the left hand with motor testing of the right hand. Mild sustention tremor was noted in the left arm, proximally and distally. Muscle strength was full in proximal and distal muscles bilaterally.

Reflexes: Normal to all modalities bilaterally.

Sensation: Normal to all modalities bilaterally.

Cerebellar: No ataxia, dysmetria, intention tremor, or dysdiadochokinesis noted.

Gait: Dystonic inversion of the right foot was noted while walking. Stance and base was normal. The patient could walk on heels and toes normally, but was unable to tandem walk. Postural reflexes were intact.

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