History and Physical — Patient 71


Chief Complaint: The patient is unable to walk.

Present Illness: An 8 year old, "mildly mentally retarded" Caucasian girl presents to the Texas Children's Hospital with progressive worsening of gait. Her mother states that for the last two days, the patient has been unable to walk without assistance; the family has resorted to using a wheelchair to transport her. The patient has been having problems walking for the past week and maybe even as long as a month, without a defined time of onset of her difficulties. She also has difficulty transitioning to different surfaces, and easily falls if pushed. According to her mother, the patient sometimes "just falls backwards as if her legs give out under her." Her mother also believes that the patient's fine motor skills have been getting worse, although she is unsure when this started, as it has "always been a problem." The patient is still able to feed herself, but is now "sloppier." Her mother also reports the patient is losing skills at school, but she is unsure exactly what the teachers mean by this. Over the past two months, the patient has had episodes of both bowel and bladder incontinence, attributed to not being able to get to the toilet on time. Her mother denies any loss of previously acquired language milestones, or new behavioral problems.

Past Medical History: The patient was a "late talker at 2 years old and a late walker at 15 months." Otherwise she is described as healthy.

Past Surgical History: Epidermal cyst removed from left eyelid at age 2.5 years.

Allergies: No known drug allergies.

Immunizations: Up to date.

Medications: None.

Social History: The patient lives with both parents, her older sister, and her younger brother.

Family History: Paternal grandfather with diabetes, maternal uncle with heart failure and hypertension. No family members with mental retardation, learning problems, behavioral problems, seizures, or other neurological disorders. There is no consanguinity in the family. An older sister and a younger brother are healthy.

Birth History: Full term, spontaneous vaginal delivery; pregnancy was complicated by pre-term labor at 7.5 months requiring unknown medication. At birth the patient weighed 7 pounds 2 ounces. There were no complications in the neonatal period and the patient was discharged home after 48 hours.

Developmental History: She held her head up at 2 months, turned over at 4 months, sat alone at 6 months, crawled at 9 months, pulled up at 9 months, walked at 15 months, fed herself at 18 months, spoke single words at 2 years, used sentences at 2.5 years, had bowel and bladder control at 2.5 years, and dressed herself at 4 years. Currently she is able to count from 1 to 20, but requires help. She has trouble holding a pencil or scissors, is not able to button, but is able to trace her name and zip her clothes.

Education History: She attends Life Skills classes at a local school. She completed a Comprehensive Individual Assessment by her school district 1.5 years ago and was found to be delayed in the areas of reading, writing, and mathematics.

Behavioral History: The patient is described as a "happy child, but easily upset and frustrated." She sleeps well. No significant concerns have been raised by teachers.

Review of Systems: Essentially negative except for a sore throat one week ago.

Physical Exam

General: Sitting upright, crying, but consolable by her mother.

Vital Signs: Temperature 97.5 F, blood pressure 131/80 mmHg, pulse 110/min., respirations 30/min with crying. FOC 49.5 cm (25th percentile). Weight 20.6 kg (20th percentile), Height (25th percentile).

HEENT: Normocephalic, atraumatic head. Sclerae anicteric, irises normal; tympanic membranes clear, mucosal membranes moist, oropharynx clear.

Neck: Supple.

Chest: Clear to auscultation and percussion.

Cardiovascular: Regular rate and rhythm without murmurs, rubs, or gallops.

Abdomen: Bowel sounds present. Abdomen soft, nontender, nondistended, no masses, no hepatospenomegaly.

Extremities: No cyanosis, clubbing, or edema. Peripheral pulses 2+ (normal). Normal number and appearance of fingers and toes.

Skin: One 3 cm hyperpigmented spot near midline on the right side of the back, as well as a smaller hypopigmented spot on the upper buttock.

Spine: No midline defects, no abnormal curvature.

Neurological Examination

Mental Status: Awake and oriented to name and location (hospital). Following commands with fair cooperation.

Speech: Spontaneous. Speech is difficult to understand, but context is seemingly appropriate.

Cranial Nerves:

Cranial Nerves


INot tested.
IIPupils equal, round and reactive to light. Responds to visual threat bilaterally, full visual fields difficult to obtain due to cooperation. Funduscopic exam: disks sharp, no abnormalities noted.
III / IV / VISpontaneous extraocular movements full and conjugate in all directions, but did not follow on command; no nystagmus.
VIIFace symmetric.
VIIIHearing acuity intact to finger rub bilaterally.
IX / XGag intact with symmetrical elevation of palate.
XIGood bulk and tone of sternocleidomastoids.
XIITongue is midline without fibrillations or atrophy.


Motor: Tone and bulk normal; strength at least 4/5 in all extremities with best level of cooperation.

Reflexes: 2+ in bilateral biceps, triceps, and brachioradialis; 3+ bilateral patellar with crossed adduction, 2+ Achilles reflexes; no extensor plantar responses noted.

Sensation: Withdraws symmetrically to noxious stimuli in all four extremities.

Coordination: The patient did not reach well for objects using her left arm, but no obvious dysmetria was noted with spontaneous movements. The patient did not cooperate with this aspect of the exam.

Gait: With minimal assistance, the patient's gait is wide based, with elbows flexed, and is unsteady. Without assistance, she takes a few wide-based steps and starts to fall.

Additional History (10 months later)

The patient presents to the hospital in status epilepticus. For at least two hours, she has had a seizure every 15 minutes, lasting 1-2 minutes with sleepiness persisting until the next ictus. The seizures consist of loss of consciousness, right or left eye deviation with no particular preference, and head turning without tonic-clonic activity, bowel or bladder incontinence, or tongue biting. In the recent past, the patient has had drop attacks as well as "staring spells" that have been well controlled on lamotrigine and valproate. The patient's mother relates progressive intellectual and functional decline since the patient's last hospital admission 10 months ago.

Repeat Neurological Examination
(after status epilepticus treated with lorazepam and fosphenytoin loading)

General: Patient appears to be sleeping, grimaces with noxious stimuli, but does not arouse.

Cranial Nerves: Pupils small and mildly reactive to light. Funduscopic exam shows pale, small discs bilaterally, with fundal pallor. Corneal reflexes intact. Horizontal and vertical eye movements intact to passive movement. Face symmetric. Gag reflex is present.

Motor/Sensory: Withdrawals to noxious stimuli in all extremities.

Reflexes: 2+ throughout.

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