This is an 18 month-old girl who has delayed motor and language skills.
She did not roll over until six months of age, sit until 14 months of
age, and at 18 months of age she is starting to pull to stand. She reaches
for objects and transfers them from hand-to-hand, but these movements
are awkward. She is social and babbles, but her only specific words are
“mama” and “dada”.
PMH: The child was born at 29 weeks gestation and experienced
minimal respiratory distress syndrome.
Family History: The parents have a five year-old son
who is healthy and who has appropriate development.
Social History: Both parents have college degrees and
BP 95/65 HR 105
T 37.1°C RR 20
General: Weight, length and head circumference are at
the 50th percentiles for her corrected age.
Mental Status: She is alert and social, she responds
to her name and recognizes familiar toys.
HEENT: PERRL, EOMI, no nystagmus. Facial sensation and
strength are normal. Palate and tongue are at midline.
Motor (Power/Tone/Bulk): Quadriceps tone is symmetrically
increased in the legs with abnormal extension and scissoring noted, particularly
when the child is irritable. The Achilles tendons are tight with incomplete
dorsiflexion. Tone is normal in the arms. Strength is normal and symmetric
in all four extremities.
Reflexes: 3/4 at biceps, brachioradialis and knees; 4/4
at ankles with 6-8 beats of clonus. Toes are upgoing to plantar simulation.
Coordination: No ataxia or dysmetria, but movements are
somewhat slow and awkward for age.
Gait: The child is not able to walk. When placed in a
standing position, she rigidly extends her legs and rises up on her toes.
Abnormal Movements: None
OtherOrgans: The general physical examination is unremarkable.
Specifically, there are no neurocutaneous lesions, nor organomegaly, the
head is normocephalic, the back and spine are straight, and there are
no dysmorphic features.