A 5-month-old girl is brought to the emergency department due to abnormal body movements. A month ago, the patient began to have occasional episodes in which she appeared startled for no apparent reason. The episodes were brief and occurred only a few times. However, their frequency has increased over the last 2 days. Temperature is 37.2 C (99 F), pulse is 160/min, and respirations are 30/min. During examination, the patient suddenly flexes at the hips and elbows for approximately 2 seconds. The patient does this several times before crying. Skin examination shows several hypopigmented, elliptical macules on the chest. The mother states that she has similar lesions. Which of the following intracranial lesions is most likely to be associated with this patient's underlying diagnosis?

Question

A 5-month-old girl is brought to the emergency department due to abnormal body movements.  A month ago, the patient began to have occasional episodes in which she appeared startled for no apparent reason.  The episodes were brief and occurred only a few times.  However, their frequency has increased over the last 2 days.  Temperature is 37.2 C (99 F), pulse is 160/min, and respirations are 30/min.  During examination, the patient suddenly flexes at the hips and elbows for approximately 2 seconds.  The patient does this several times before crying.  Skin examination shows several hypopigmented, elliptical macules on the chest.  The mother states that she has similar lesions.  Which of the following intracranial lesions is most likely to be associated with this patient's underlying diagnosis?

Quizplus · Accepted Answer

11ec25c8_d6ff_38b0_bc81_d58cc7a88a3e_MD0003_00 This patient's abnormal movements are concerning for infantile spasms, seizures that typically present in infancy with clusters of brief muscle contractions, which can appear similar to exaggerated startles (eg, flexion of neck) and abdominal crunches (eg, flexion of trunk and extremities). Although infantile spasms can present as isolated seizures, tuberous sclerosis complex (TSC) is the most commonly associated neurocutaneous disorder and should be considered in any patient with infantile spasms, particularly if characteristic dermatologic manifestations (eg, ash-leaf spots) or a family history of similar findings is present, as in this patient. ash-leaf spots Seizures are a common presenting feature of TSC, an autosomal dominant disorder characterized by benign tumors in multiple organs (eg, brain, heart, kidney). Subependymal giant cell tumor is the classic CNS lesion in TSC. This slow-growing, periventricular tumor is usually asymptomatic but may cause obstructive hydrocephalus (eg, headache, vomiting, focal neurologic deficits). Other tumors associated with TSC include cardiac rhabdomyomas, renal angiomyolipomas, and retinal hamartomas. Management of TSC includes serial skin and eye examinations and tumor surveillance (eg, MRI of the brain and kidney, echocardiography). In addition, patients should undergo electroencephalography due to the associated risk of seizures (eg, infantile spasms) as well as neuropsychiatric testing due to TSC-associated neurocognitive disorders (eg, learning disabilities, autism). (Choice A) Acoustic schwannoma is seen in almost all patients with neurofibromatosis type 2 (NF2), an autosomal dominant neurocutaneous disorder. Skin findings can include cutaneous plaques and tumors, not hypopigmented macules. Infantile spasms are not associated with NF2. (Choice B) Von Hippel-Lindau disease is an autosomal dominant disorder associated with multiple tumor types, including cerebellar hemangioblastoma. Patients do not have cutaneous features or infantile spasms. (Choice C) Leptomeningeal angiomatosis is an intracerebral vascular lesion found in patients with Sturge-Weber syndrome. Infantile spasms can occur but less frequently than with TSC. In addition, this patient's hypopigmented macule and lack of port-wine stain make TSC more likely. (Choice D) Optic nerve glioma occurs in NF1, an autosomal dominant neurocutaneous disorder. Characteristic skin findings include hyperpigmented café au lait macules, axillary and inguinal freckling, and neurofibromas, not ash-leaf spots. NF1 Educational objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by distinct skin features and benign tumor formation, including subependymal giant cell tumors in the brain and cardiac rhabdomyomas. TSC should be suspected in infants with infantile spasms and ash-leaf spots. References: Tuberous sclerosis complex. (http://www.ncbi.nlm.nih.gov/pubmed/27226234) Epilepsy in tuberous sclerosis complex: findings from the TOSCA study. (http://www.ncbi.nlm.nih.gov/pubmed/30868117)

A 5-Month-Old Girl Is Brought to the Emergency Department Due