A girl with spastic tetraparesis associated with biotinidase deficiency.

Biotinidase deficiency is a disorder of biotin metabolism that manifests with cutaneous, ophthalmological and neurologyical symptoms in childhood. Spinal cord involvement has rarely been reported and all of the reported cases are spastic paraparesis. A 3 year-old girl with biotinidase deficiency was admitted to our clinic with hyperventilation, hair loss and spastic tetraparesis. To our knowledge, our case is the first reported tetraparesis associated with biotinidase deficiency. She was treated with oral biotin and benefited significantly from this therapy.

[Celiac crisis with quadriplegia due to potassium depletion as presenting feature of celiac disease]. / Crise coeliaque associée à une tétraplégie par hypokaliémie de déplétion révélatrice d'une maladie coeliaque.

INTRODUCTION: Adult coeliac disease revealed by coeliac crisis and quadriplegia due to potassium depletion is an extremely rare situation. CASE REPORT: A 26-year-old woman presented with a suddenly developed weakness of all four limbs and a severe diarrhea. Authors emphasize coeliac crisis, which is a presenting feature of coeliac disease, characterized by acute diarrhea with life-threatening acid base and electrolyte abnormalities. The patient improved with correction of hypokalemia and gluten-free diet. CONCLUSION: A severe acute diarrhea with metabolic and systemic complications, the so-called coeliac crisis, is a possible presenting clinical feature of a previously undiagnosed adult celiac disease.

Effect of nutritional support in children with spastic quadriplegia.

Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.

Energy requirements of spasticity.

Direct measurement of energy expended by spasticity in children with severe spastic quadriparesis is difficult. Insertion of an intrathecal baclofen pump in a 13-year-old boy with severe spasticity and profound mental retardation resulted in an estimated 30 to 40% decrease in his spasticity. As he had been on a carefully calculated ketogenic diet and fed by gastrostomy, his precise caloric intake was known. Decrease in spasticity, on the same caloric intake, led to marked weight gain. Reduction of 100 calories intake resulted in new weight stability. It was possible therefore, to estimate indirectly energy used by his spasticity. This 100 calories, representing 34% of calories above his resting energy requirement, corresponded to an independently estimated 30 to 40% of caloric expenditure of his spasticity. It was concluded that when calculation of calories is critical, energy utilization by spasticity must be taken into consideration.

Nutrition in spinal cord injury patients.

The nutrient intake and some indices of nutritional state were studied in 22 quadriplegic and 15 paraplegic patients. When measured over two 5-day periods, the average caloric intake recommended for comparable healthy men (2,700 kcal/day) was not achieved by 75% of the quadriplegic and 47% of the paraplegic patients. No overt signs of malnutrition or vitamin deficiencies were observed, but the average hematocrit and serum albumin levels were at the lower limits of normal. The reduced energy needs of spinal cord patients should be considered in the development of desirable nutritional norms for this patient population.