Cases reported "Muscular Diseases"

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1/41. An unusual manifestation of diabetes mellitus.

    MEDICAL history: Type 2 diabetes mellitus for five years; unexplained 35-lb weight loss three years ago; Bell's palsy on right side many years ago. MEDICATIONS: glipizide, 10 mg/day. family history: Father died of leukemia at age 65; mother has kidney stones; no diabetes or neuromuscular disease. SOCIAL history: insurance salesman; heterosexual, promiscuous, uses condoms; smokes (25 pack years); does not drink. physical examination: Well-nourished, well developed, not in acute distress; had difficulty rising from a sitting position because of right lower extremity weakness. blood pressure, 154/74; pulse, 88; temperature, 36.6 degrees C; respiratory rate, 16. head, eyes, ears, nose, and throat: normal. neck: normal. heart: S4. Lungs: clear. abdomen: mildly obese. extremities: no cyanosis, clubbing, or edema; atrophy and weakness of right thigh and both calves; wide-based gait; able to walk on toes but not heels. Neurologic responses: cranial nerves intact; deep tendon reflexes, 1 symmetrically; plantar reflexes, flexor bilaterally. skin: macular rash in sun-exposed areas. LABORATORY FINDINGS: Hemoglobin, 13.2 gm/dL; mean corpuscular volume, 80 micron 3; white blood cell count, 7,200/mm3 (normal differential); platelet count, 137,000/mm3. serum: electrolytes, normal; blood urea nitrogen, 18 mg/dL; creatinine, 0.8 mg/dL; glucose, 308 mg/dL; total protein, albumin, liver enzymes, and creatine kinase, normal. urine: 1 glucose. Venereal disease test: nonreactive; hiv test: negative. DIFFERENTIAL DIAGNOSIS: dermatomyositis; heavy-metal poisoning; diabetic amyotrophy. HOSPITAL COURSE: The patient was given 50 mg/day of oral amitriptyline to alleviate the painful paresthesias and was switched to 20 U/day of subcutaneously injected neutral protamine Hagedorn (NPH) insulin to normalize the blood glucose level. Histologic studies of skin and muscle showed sun damage and neuropathic changes, respectively. There was no evidence of vasculitis. Screening for heavy-metal toxins produced negative results.
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2/41. Compartmental syndromes in which the skin is the limiting boundary.

    Following closed fasciotomy, skin may become the limiting boundary of extremity swelling. The resulting increase in pressure within the limb may threaten its survival. Realizing this potential complications, we reserve closed fasciotomy for those cases in which only moderate swelling is anticipated. Following this procedure the patient is observed closely for evidence that decompression dermotomy is indicated. patients in whom severe swelling is present or anticipated are treated with fasciotomy and primary dermotomy. Wounds are closed by either primary or delayed skin graft. This approach has proven useful in the management of traumatized or vascularly embarrassed limbs in which swelling may compromise extremity viability.
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3/41. diaphragm strength in acute systemic lupus erythematosus in a patient with paradoxical abdominal motion and reduced lung volumes.

    Diaphragmatic weakness is reported as a common feature of the shrinking lung syndrome of systemic lupus erythematosus (SLE). However, in chronic stable SLE it has been shown that, despite poor performance of voluntary tests of diaphragm strength, twitch pressures obtained by stimulating the phrenic nerves are normal. We present a patient with acute SLE and pulmonary involvement who, despite having paradoxical abdominal motion and low maximal inspiratory pressures during voluntary manoeuvres, had normal diaphragm strength when assessed with magnetic stimulation of the phrenic nerves. Following immunosuppressive therapy symptoms and lung function improved, yet diaphragm contractility remained normal and unchanged. We suggest that this case supports the view that reduced diaphragm muscle contractility per se does not explain the small volume lungs and respiratory symptoms in patients with acute SLE.
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4/41. Respiratory flutter syndrome: an underrecognized cause of respiratory failure in neonates.

    We report the clinical and respiratory data of three neonates with flutter of the diaphragm and intercostal muscles, presenting soon after birth with respiratory failure. The breathing pattern was dirhythmic with superimposed frequencies, one regular and slow (60/min) representing the underlying respiratory rate, the other fast (> 300/min) and limited to inspiration. Nasal continuous positive airway pressure immediately normalized the breathing pattern in one infant, and improved ventilation in the two others. Pharmacologic therapy with chlorpromazine terminated the respiratory flutter and permitted weaning of ventilatory support within a few hours. Coexistent dysphagia suggested a disorder of brainstem function, although the children were otherwise developmentally normal at 8, 10, and 26 mo old. laryngomalacia and gastroesophageal reflux were also present. We propose that the occurrence of respiratory flutter, dysphagia, laryngomalacia, and gastroesophageal reflux in a neonate constitutes a distinct clinical entity, termed the "respiratory flutter syndrome." The diagnosis of three infants with this presentation during an 18-mo period suggests that this may be a more frequent cause of respiratory failure in newborns than previously recognized.
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5/41. Severe respiratory failure secondary to Cushing's myopathy.

    We report a 55-year-old woman with typical clinical, biochemical and radiological features of Cushing's disease, who developed a severe respiratory insufficiency as the main symptom. She also complained of proximal muscle weakness over the last year and progressive dyspnea over the last four months. Bronchospasm, respiratory infection or cardiologic dysfunction were excluded. Arterial blood gas analysis showed severe respiratory insufficiency with hypoxemia and hypercapnia, respiratory acidosis and a normal alveolar-arterial oxygen gradient. spirometry and plethysmography showed a restrictive ventilatory failure and maximum inspiratory and expiratory pressures were reduced. These findings were strongly suggestive of neuromuscular disease. serum creatine kinase, aldolase, sodium, potassium and thyroid function tests were normal. An electromyogram and a muscle biopsy confirmed myopathic disease. ketoconazole therapy improved her symptoms and respiratory function tests. In conclusion although proximal myopathy is a frequent presenting symptom of Cushing's syndrome, involvement of respiratory muscles with severe restrictive ventilatory dysfunction has not been previously reported as the main initial feature of Cushing's disease. Medical treatment of hypercortisolism improves muscle strength and resolves the respiratory insufficiency.
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6/41. Tissue pressure measurements as a determinant for the need of fasciotomy.

    An experimental and clinical tehcnique of measuring tissue pressures within closed compartments demonstrates a normal tissue pressure is approximately zero mmHg, and increased markedly in compartmental syndromes. There is inadequate perfusion and relative ischemia when the tissue pressure within a closed compartment rises to within 10-30 mm Hg of the patient's diastolic blood pressure. Fasciotomy is usually indicated, therefore, when the tissue pressure rises to 40-45 mm Hg in a patient with a diastolic blood pressure of 70 mm Hg and any of the signs or symptoms of a compartmental syndrome. There is no effective tissue perfusion within a closed compartment when the tissue pressure equals or exceeds the patient's diastolic blood pressure. A fasciotomy is definitely indicated in this circumstance, although distal pulses may be present. The measurement of tissue pressure aids in the early diagnosis and appropriate treatment of compartmental syndromes.
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7/41. Volkmann's ischemia. A volar compartment syndrome of the forearm.

    In a series of 19 patients with Volkmann's iscemia, 63 per cent had suffered skeletal trauma, whereas 38 per cent had received non-skeletal trauma. Non-specific trauma may trigger an ischemia-edema cycle, producing increased intracompartmental pressure. This cycle, if unrelieved, can involve all of the muscles in the compartment, via cyclic propagation and reinforcement of arterial spasm. The volar compartmental syndrome is not an all or none phenomenon. Localized ischemia may trigger a gradually spreading arterial spasm which results in slowly progressive clinical changes as late as 3-4 months after onset. decompression not only of the compartment but of each individual muscle which shows evidence of vascular compromise, may reverse this destructive cycle even as late as 3-4 months but it should be performed promptly with the onset of symptoms, when its effect is rapid and dramatic. Induration of the compartment is pathognomonic of the compartmental syndrome. As long as it is present, benefit can be expected from decompression procedures. regeneration of necrotic ischemic muscle is possible following restoration of circulation.
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8/41. Compartmental syndrome and its relation to the crush syndrome: A spectrum of disease. A review of 11 cases of prolonged limb compression.

    A review of 11 cases of prolonged limb compression usually following drug overdose, revealed a spectrum of disease from isolated compartmental syndromes to full crush syndromes with renal failure. Residual limb contractures were moderate or severe in 80 per cent of the extremities involved. Five of the 11 patients demonstrated significant, systematic manifestations, Stage II or Stage III crush syndrome by our definition. The severity of the systemic manifestations is related to the amount of muscle tissue being subjected to elevated pressure and the length of time this pressure is maintained. Delay in hospitalization, delay in diagnosis, and delay in treatment prolong this period. The diagnosis should be made on the basis of the histroy of prolonged immobilization and the finding of a swollen extremity. Fasciotomy should be performed immediately, both to minimize residual limb contracture and to prevent the crush syndrome from developing secondary to myonecrosis.
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9/41. Rippling muscle disease in childhood.

    Rippling muscle disease is a rare autosomal dominant disorder first described in 1975. Recently, it could be classified as a caveolinopathy; in European families, mutations in the caveolin-3 gene were revealed as causing this disease. Although clinical symptoms were almost all described in adulthood, we are now reporting clinical data of seven children with rippling muscle disease owing to mutations in the caveolin-3 gene. Initial symptoms were frequent falls, inability to walk on heels, tiptoe walking with pain and a warm-up phenomenon, calf hypertrophy, and an elevated serum creatine kinase level. percussion-/pressure-induced rapid contractions, painful muscle mounding, and rippling could be observed even in early childhood. The diagnosis can be confirmed by molecular genetic analysis. Muscle biopsy must be considered in patients without muscle weakness or mechanical hyperirritability to differentiate between rippling muscle disease and limb-girdle muscular dystrophy 1C.
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10/41. Complete paralysis of the quadriceps muscle caused by traumatic iliacus hematoma: a case report.

    A15-year-old girl who developed traumatic iliacus hematoma and complete paralysis of the quadriceps muscle is reported. The current case and literature review revealed that incomplete quadriceps paralysis associated with traumatic iliacus hematoma is likely to progress to complete paralysis in days or weeks as a result of increased intracompartmental pressure. However, surgical decompression of the femoral nerve could produce good results even in patients who have complete quadriceps paralysis preoperatively.
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