Passos-Bueno syndrome
Overview
A very rare syndrome characterized by mental retardation, reduced muscle tone, incontinence, muscle wasting and inability to walk or speak.
Symptoms
* Absent speech * Walking inability * Muscle wasting * Muscle weakness * Reduced muscle tone * Mental retardation * Incontinence
Causes
Amyotrophic lateral sclerosis (ALS) Burns Hypothyroidism Meniscal tear Multiple sclerosis Osteoarthritis Parkinson’s disease Peripheral neuropathy Protein deficiency Rheumatoid arthritis Spinal cord injury
Diagnosis
Ask the patient when and where he first noticed the muscle wasting and how it has progressed. Also ask about associated signs and symptoms, such as weakness, pain, loss of sensation, and recent weight loss. Review the patient’s medical history for chronic illnesses; musculoskeletal or neurologic disorders, including trauma; and endocrine and metabolic disorders. Ask about his use of alcohol and drugs, particularly steroids. Begin the physical examination by determining the location and extent of atrophy. Visually evaluate small and large muscles. Check all major muscle groups for size, tonicity, and strength. (See Testing muscle strength, pages 418 and 419.) Measure the circumference of all limbs, comparing sides. (See Measuring limb circumference.) Check for muscle contractures in all limbs by fully extending joints and noting pain or resistance. Complete the examination by palpating peripheral pulses for quality and rate, assessing sensory function in and around the atrophied area, and testing deep tendon reflexes (DTRs).
Treatment
If the patient’s muscle flaccidity results from trauma, make sure his cervical spine has been stabilized. Quickly determine his respiratory status. If you note signs and symptoms of respiratory insufficiency — dyspnea, shallow respirations, nasal flaring, cyanosis, and decreased oxygen saturation — administer oxygen by nasal cannula or mask. Intubation and mechanical ventilation may be necessary.