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202102-135151

2021

Empire BlueCross BlueShield HealthPlus

Medicaid

Central Nervous System/ Neuromuscular Disorder

Diagnostic Testing (other than Radiology)

Medical necessity

Overturned

Case Summary

Diagnosis: Autonomic Dysfunction
Treatment: Autonomic Testing
The health plan denied the requested autonomic testing.
The health plan's determination is overturned.

The patient is a male who has been referred for diagnostic testing for autonomic dysfunction. A letter by a clinical geneticist at the facility describes that planned testing will include muscle biopsy, fasting test, metabolic testing and various imaging studies as a diagnostic evaluation to clarify the patient's diagnosis and establish an appropriate treatment plan.
A letter from another physician describes that the patient has a complex medical history. He was noted to have right sided weakness (right hemiplegia) in infancy, enlarged liver and spleen (hepatosplenomegaly) demonstrated on abdominal ultrasound, and had a stroke-like episode when he was younger. An extensive genetic workup has not revealed a clear diagnosis. This physician notes that an in-patient fasting study and the additional metabolic/functional testing required to clarify the patient's diagnosis cannot be performed at the requested health care facility. Letters by two additional physicians also request approval for testing. A letter describes that the patient has developmental delay, with episodes of regression related to illness. He has hypoglycemia, pallor, weakness, puffiness of the face, abdominal pain, rashes and intermittent fevers.

A physician recommended additional workup at the health care facility to include spinal tap, functional test to full out McArdle's disease (PYGM gene), and a fasting test.
Whether this diagnostic workup is medically necessary for the patient is the issue at question in this review.

The health plan's determination of medical necessity is overturned, in whole.

The patient has an extremely complex medical history, with concerning recurrent episodes of unexplained, documented hypoglycemia, episodes of unresponsiveness, hepatosplenomegaly, stroke-like episodes and early right sided hemiparesis. An extensive genetic evaluation has not elucidated the cause of his recurrent, potentially life-threatening symptoms. His history is highly suggestive of an underlying, complex metabolic disorder which has already resulted in neurological deficit. Additional diagnostic work up is imperative to clarify the cause of his recurrent episodes of hypoglycemia, weakness and altered consciousness, and to prevent further neurological damage or death. The diagnostic workup is highly specialized, and numerous physicians who have explained that such testing cannot be performed at the local facility.
The autonomic testing requested is medically necessary for the patient. He has had an extensive workup which has not revealed a definitive diagnosis. Clarification of the underlying cause of his symptoms is vital to prevent further neurological deterioration or death. Testing also offers the probability of therapeutic intervention.

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