Case Vignettes in Neurology

PATIENT CASE STUDIES

Case 36 (Pediatric Neurology Case 6.)
Case discussion History: A nine month old boy is noted to have recurrent episodes of irritability. At 12 months of age he could no longer pull to a stand, and at 14 months of age he could no longer crawl or sit. Exam: At nine months of age the boy had slight hypotonia of the neck, trunk and extremities. His strength and reflexes were normal. When re-examined at 14 months of age, he has marked hypotonia of the neck and trunk, and spasticity of the extremities with diffusely brisk reflexes and clonus at both ankles. He no longer regards objects with his eyes and he does not smile or verbalize.
Summarize the Case in 1-2 sentences. The child presented with a chronic, progressive, degenerative disease. On physical exam the patient shows spasticity, brisk reflexes, clonus at both ankles and a decrease in attention and interaction with the environment. what is the age? what is the timing for the physical findings? Discuss lesion localization on the basis of the physical examination. Progression of hypotonia at 9 months of age to spasticity of the extremities at 14 months of age suggests a process of the central nervous system. The PE shows spasticity, brisk reflexes and clonus at both ankles. This would suggest an upper motor neuron lesion. There is no lateralization. The lack of smiling, verbalization or following objects with his eyes also suggests a central process. good, what does lack of following objects with eyes suggest? Discuss underlying pathogenesis on the basis of clinical course. The disease sounds like a progressive, degenerative disease of the central nervous system. The most likely diagnosis with this clinical course is an inborn error of metabolism. ok Indicate one likely clinical diagnosis. List (or classify) alternative diagnoses. The most likely diagnosis with the information given is Krabbe’s disease (globoid cell leukodystrophy). The patient presented with motor abnormalities and irritability. A differential diagnoses list would include Krabbe’s Disease (Globoid cell leukodystrophy), Phenylketunaria, Hypothyroidism, Metachromatic leukodystrophy, or Tay-Sachs disease. ok Indicate 2 ancillary tests that would assist in confirming or refuting the clinical diagnosis. Indicate the test results that would confirm the clinical diagnosis. A blood test could show a biochemical deficiency of the galactocerebroside-beta-galactosidase enzyme. A peripheral nerve biopsy can also establish the diagnosis of Krabbe’s disease and it would show demyelinization. ok Indicate complications of the disease and ancillary tests that would help evaluate them. Complications of this disease include death, commonly by the age of 2. It is a rapidly progressive demyelinating disease with no treatment or cure. what are the neurological complications? Discuss how the underlying pathophysiology is relevant in the management of this patient. Knowing that this is a progressive demyelinating disease, there is little you can do to improve the life expectancy of this child. The treatment of choice is supportive care. this answer is not adequate; remember the role of the physician is occasionally to cure, often to alleviate suffering, always to console; in this particular disease how does understanding the pathophysiology of the disease allow us to manage the patient?

Case 36 (Pediatric Neurology Case 6.)

Case discussion

History: A nine month old boy is noted to have recurrent episodes of irritability. At 12 months of age he could no longer pull to a stand, and at 14 months of age he could no longer crawl or sit.

Exam: At nine months of age the boy had slight hypotonia of the neck, trunk and extremities. His strength and reflexes were normal. When re-examined at 14 months of age, he has marked hypotonia of the neck and trunk, and spasticity of the extremities with diffusely brisk reflexes and clonus at both ankles. He no longer regards objects with his eyes and he does not smile or verbalize.

Summarize the Case in 1-2 sentences.

The child presented with a chronic, progressive, degenerative disease. On physical exam the patient shows spasticity, brisk reflexes, clonus at both ankles and a decrease in attention and interaction with the environment.

what is the age? what is the timing for the physical findings?

Discuss lesion localization on the basis of the physical examination.

Progression of hypotonia at 9 months of age to spasticity of the extremities at 14 months of age suggests a process of the central nervous system. The PE shows spasticity, brisk reflexes and clonus at both ankles. This would suggest an upper motor neuron lesion. There is no lateralization. The lack of smiling, verbalization or following objects with his eyes also suggests a central process.

good, what does lack of following objects with eyes suggest?

Discuss underlying pathogenesis on the basis of clinical course.

The disease sounds like a progressive, degenerative disease of the central nervous system. The most likely diagnosis with this clinical course is an inborn error of metabolism.

Indicate one likely clinical diagnosis. List (or classify) alternative diagnoses.

The most likely diagnosis with the information given is Krabbe’s disease (globoid cell leukodystrophy). The patient presented with motor abnormalities and irritability.

A differential diagnoses list would include Krabbe’s Disease (Globoid cell leukodystrophy), Phenylketunaria, Hypothyroidism, Metachromatic leukodystrophy, or Tay-Sachs disease.

Indicate 2 ancillary tests that would assist in confirming or refuting the clinical diagnosis. Indicate the test results that would confirm the clinical diagnosis.

A blood test could show a biochemical deficiency of the galactocerebroside-beta-galactosidase enzyme. A peripheral nerve biopsy can also establish the diagnosis of Krabbe’s disease and it would show demyelinization.

Indicate complications of the disease and ancillary tests that would help evaluate them.

Complications of this disease include death, commonly by the age of 2. It is a rapidly progressive demyelinating disease with no treatment or cure.

what are the neurological complications?

Discuss how the underlying pathophysiology is relevant in the management of this patient.

Knowing that this is a progressive demyelinating disease, there is little you can do to improve the life expectancy of this child. The treatment of choice is supportive care.

this answer is not adequate; remember the role of the physician is occasionally to cure, often to alleviate suffering, always to console; in this particular disease how does understanding the pathophysiology of the disease allow us to manage the patient?