A 10-month-old girl is brought to the office because she has not yet begun to stand. She can pull herself along the floor using her arms but drags her legs. The patient was born at 32 weeks gestation by spontaneous vaginal delivery after the mother developed preeclampsia with severe features. Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. On physical examination, the patient is alert and well appearing. She says "mama" and "dada." Mild hypertonia of the upper extremities is noted; bilateral lower extremities are hypertonic with significant resistance to passive extension. Patellar reflexes are brisk. Bilateral feet have equinovarus deformities, but the examination shows no other dysmorphic features. The Babinski reflex is present bilaterally. Which of the following is the most likely diagnosis for this patient?

Question

A 10-month-old girl is brought to the office because she has not yet begun to stand.  She can pull herself along the floor using her arms but drags her legs.  The patient was born at 32 weeks gestation by spontaneous vaginal delivery after the mother developed preeclampsia with severe features.  Apgar scores were 7 and 8 at 1 and 5 minutes, respectively.  On physical examination, the patient is alert and well appearing.  She says "mama" and "dada."  Mild hypertonia of the upper extremities is noted; bilateral lower extremities are hypertonic with significant resistance to passive extension.  Patellar reflexes are brisk.  Bilateral feet have equinovarus deformities, but the examination shows no other dysmorphic features.  The Babinski reflex is present bilaterally.  Which of the following is the most likely diagnosis for this patient?

Quizplus · Accepted Answer

11ec25c8_d6e9_b4b9_bc81_4d9859a694e2_MD0003_00 Cerebral palsy (CP) is a nonprogressive motor dysfunction characterized by abnormal tone, movement, and development. CP is usually caused by prenatal insults to the brain, with prematurity (ie, <37 weeks gestation) as the greatest risk factor. CP in premature infants is associated with periventricular leukomalacia (white matter necrosis from ischemia) and intraventricular hemorrhage (germinal matrix bleeding due to fragile vasculature). The first sign of CP is often gross motor delay during infancy. Spastic CP, as seen in this patient, is the most common subtype and is characterized by resistance to passive muscle stretch. Hypertonia and hyperreflexia predominantly involve the lower extremities (eg, spastic diplegia), and patients are at increased risk for foot deformities (eg, talipes equinovarus). Although this infant's inability to stand alone is normal for corrected gestational age, her "commando crawl" (eg, pulling herself with her arms while dragging her legs) is commonly seen with CP due to contractures of the lower limbs. Other CP subtypes based on movement and tone include dyskinetic (ie, involuntary movement) and ataxic (ie, incoordination). talipes equinovarus The diagnosis is typically established by age 2. Patients with CP may have other associated conditions, including seizures, intellectual disability, vision problems, speech impairment, and/or feeding difficulties; however, these conditions are not always present. (Choice B) Myotonic dystrophy can present in neonates with marked hypotonia and respiratory distress or in children/adults with chronic weakness and pain affecting the facial and distal muscles. Since pathology is related to muscle fiber atrophy, examination would show muscle wasting (eg, sternocleidomastoid), and upper motor neuron signs (eg, hyperreflexia) would not be present. Moreover, myotonia (impaired grip release), rather than sustained hypertonia, is typical. (Choice C) Rett syndrome is a neurodevelopmental disorder characterized by normal development in infancy followed by developmental regression, repetitive hand movements (eg, wringing), and abnormal gait (eg, ataxia). It is not associated with spastic diplegia. (Choice D) Spinal muscular atrophy is an autosomal recessive disorder that may present with delayed gross motor milestones, but patients have proximal muscle weakness and hypotonia, not hypertonia. (Choice E) Tethering with stretching of the spinal cord leads to lower extremity weakness and hyporeflexia. The upper extremities are not affected, and this patient's upper motor neuron signs are inconsistent with those of tethered cord. Tethering Educational objective: Cerebral palsy is a nonprogressive motor dysfunction; prematurity is the leading risk factor. The most common findings are gross motor delay in infancy and spasticity (eg, hypertonia, hyperreflexia). References: Risk factors associated with cerebral palsy in preterm infants. (http://www.ncbi.nlm.nih.gov/pubmed/21463212)

A 10-Month-Old Girl Is Brought to the Office Because She