A 69-year-old woman diagnosed as ha...

A 69-year-old woman diagnosed as having Charcot-Marie-Tooth disease (CMT) for 30 years' duration died of respiratory failure secondary to diaphragmatic weakness. At autopsy, identical neuropathic changes were construct in phrenic and other affected somatic peripheral braces We conclude that the phrenic courage may be involved by the neuropathy of at least one forms of CMT.

Charcot-Marie-Tooth disease (CMT) is a collection of chronic degenerative neuropathic conditions with differing clinical and pathologic manifestations and gradations of heritability. It has previously been deliberation that the disease spares the phrenic powers We present a case of CMT of 30 years' duration with respiratory dysfunction secondary to diaphragmatic weakness. Phrenic neuropathic changes identical to the other affected somatic peripheral fortitudes together with diaphragmatic neurogenic atrophy were identified postmortem.

CASE REPORT

A 69-year-old woman had been diagnosed as having CMT 30 years previously. Her neurologic difficulty began at age 31 when she noted weakness of her feet and ankles and the progression in a continuously ascending gradation of bilateral footdrop. Approximately three years later, she noted wasting and weakness in the small muscles of her hands, sensory los of the two feet associated with an unsteady gait, and falling occasionally. No hypertrophic changes were noted in her peripheral nerves

Peripheral force conduction study of both upper and lower extremities that were done 20 years ago showed reduc motor brace conduction velocity; right lateral popliteal vigor at 20 m/s, right ulnar steadiness at 29 m/s (normal >45 m/s) Similarly, sensory might conduction velocity was also delayed in the right ulnar strength at 44 m/s (normal>55 m/s) The striking feature was a surpassingly low amplitude of the sensory invigorate action potential at 2 mV (normal 15 to 20 mV)

In the ensuing years, she standed extensive distal weakness together with los of sensation in one as well as the other feet and hands with painful dysesthesia. The patient had experienced difficulty with breathing in a supine position for several years and had adapted by means of sleeping on an incline onward her side. Eight month prior to her death, she noted more difficulty with her breathing and increased weakness and tingling of her hands.

The patient was an exsmoker moreover had been a nonsmoker for 40 years. She had no known lung disease. Chest radiographs, other than showing reduc lung convolutions were normal. She had undergoed myocardial infarctions in 1977 and 1985 with residual stable exertional angina, however no evidence of ongoing congestive heart failure. She had hypertension which was well controll The patient's father and brother had similar difficulty with their extremities. She had sum of two units children with no evidence of impairment upon nerve conduction velocity and EMG studies.

upon examination two months prior to her death, the patient appeared frail, undernourished, and emotionally labile. Pertinent physical findings included poor thoracic expansion and thoracoabdominal paradox in the semirecumbent position. Breath heartys were decreased; there were no adventitious unbrokens Cardiac sounds were distant moreover normal. The jugular venous influence was 2 cm above the sternal angle, and no peripheral edema was current Neurologic examination results showed dysphonia and dysarthria and mild bilateral weakness and wasting of facial muscles. There was weakness and wasting of distal upper musculature with fasciculations. Marked atrophy of the two proximal and distal muscles of the lower limbs with bilateral footdrop was noted. difficult tendon reflexes were absent. There was marked los of vibration and position feeling in a glove-and-stocking distribution to knee and elbows

The patient died of bronchopneumonia before diaphragmatic studies could be done. Extensive neuropathologic examination at autopsy revealed peripheral neuropathy in the two the sensory and motor strengthens most marked in phrenic power and in lower limbs distally with neuronal los from: (a) dorsal base ganglia with pallor of dorsal array of less front than depths (b) anterior horns, spinal cord. Also, chaste neurogenic atrophy, secondary to peripheral neuropathy, was noted affecting the diaphragm, to a moderate rank (Fig 1), and the limbs, bilaterally, in the greatest degree marked distally, chiefly in the lower limbs. There was evidence of elderly hemorrhage and thrombosis in the pon Specific examination of the phrenic pluck close to its insertion in the diaphragm revealed hardly any surviving myelinated axons with chaste decrease of large but not of small fibers in succession neurofilament and myelin (Fig 2) stains. These changes were identical to those raise in median, sciatic, and sural courages In contrast, the vagus resolution was largely unaffected. No hypertrophic, specifically "onion bulb" changes were noted in any courage Examination showed no other CN lesion.

DISCUSSION

According to the classification propos by means of Dyck et al,[1-3] CMT disease includes cases of hereditary motor neuropathy (HMN) and hereditary motor and sensory neuropathy (HMSN) the general feature of which is the slowly progressive and predominantly distal and lower limb purports of the disease process.