Case18

Background

An 8-year-old white girl presented to the emergency department (ED) with a finger injury. Eleven days prior to this, she fell while playing at school and sustained an injury to her right fourth and fifth digits. Nine days prior to the ED visit, she also sustained a burn to her right second digit after touching a curling iron. Local wound care had been performed at home by her mother, and had included daily soaking and wrapping with gauze.
Two days prior to the visit, the girl's fourth finger reportedly developed erythema and began to drain clear fluid from the fingertip. Additionally, the mother noticed "something white" protruded from the end of the fourth fingertip, which "looked like a bone." This fragment was brought with the child to the hospital. An x-ray of the right hand showed a missing distal fourth phalanx.







The patient was admitted to the hospital. Following admission, the patient and her mother denied that she had experienced fever, chills, nausea, bleeding or pain of the affected areas. Her mother stated that her daughter was a "slow healer." In fact, she had a wound on the bottom of her left great toe for 1 year, after stepping on an oyster shell. In spite of having a skin graft to this wound, it still had not healed completely.
Physical Examination
Vital signs: oral temperature 97.9° F, pulse 68, respiratory rate 18/min, blood pressure 114/66 mm Hg.
The child was a thin female who appeared in no acute distress. There were no obvious signs of trauma. Pertinent findings included an old scab on the right second fingertip, edema and slight erythema of the right fourth distal phalanx with a 25-mm opening at the center of the fingertip, and a partially missing right fifth fingernail with erythema surrounding the nailbed. The left great toe had a 0.5-cm defect on the dorsum; the area had a purple discoloration due to the use of gentian violet by her mother. Mild clubbing of all digits was also present.
On neurologic examination, the patient was alert and oriented to person, place, and self and answered questions appropriately. All cranial nerves were intact, with no speech deficits. In all extremities, 5/5 motor strength was observed. There was decreased fine sensation and delayed response to vibratory stimulation on all extremities. The deep tendon reflexes were decreased throughout.

Laboratory Analysis
X-ray of the right hand revealed a partially missing right fifth fingernail, and a missing fourth distal phalanx. An x-ray and MRI of the left foot were suggestive of chronic osteomyelitis of great toe with a pathologic fracture.

On admission, blood cultures were drawn and a culture from the great toe wound was obtained. Intravenous (IV) cefazoline was started empirically. Consultations from Neurology and Orthopaedics were obtained. A neurologic workup was performed to investigate possible causes of the peripheral neuropathy. The results of a hemoglobin A1c; heavy metal screen; levels of vitamins B12, B6, and E and creatinine phosphokinase; serum protein electrophoresis; serum immunoelectrophoresis; and serum cryoglobulins were all within normal limits.
The culture of the great toe wound subsequently grew Enterococcus spp. An MRI of the spine was also within normal limits.
Nerve Conduction Studies
Motor conduction study of the peroneal nerve and left median nerve bilaterally revealed mildly slowed motor conduction velocity and significantly small compound muscle action potential amplitude. Right ulnar and tibial nerve motor conduction study showed low normal motor conduction velocity and normal compound muscle action potential amplitude.
Needle examination of the right lower extremity revealed signs of subtle denervation and reduced interference pattern in the feet muscles, consistent with neuropathy. The findings from this study were indicative of motor-sensory neuropathy, predominantly sensory, most likely hereditary.

What is Diagnosis?

Diagnose:HMSN-type II neuropathy (Charcot-Marie-Tooth [CMT] disease)