ABSTRACT
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.
Subject(s)
Cerebral Palsy/diet therapy , Malnutrition/diet therapy , Nutritional Support , Quadriplegia/diet therapy , Body Height , Body Mass Index , Body Weight , Cerebral Palsy/complications , Child , Child, Preschool , Deglutition Disorders/diet therapy , Deglutition Disorders/etiology , Female , Follow-Up Studies , Humans , Infant , Male , Malnutrition/etiology , Quadriplegia/complicationsSubject(s)
Headache/physiopathology , Trigeminal Neuralgia/physiopathology , Age of Onset , Child , Conjunctival Diseases , Follow-Up Studies , Headache/diagnosis , Headache/drug therapy , Humans , Male , Syndrome , Tears , Treatment Outcome , Trigeminal Neuralgia/diagnosis , Trigeminal Neuralgia/drug therapyABSTRACT
We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg-->stop (CGA-->TGA) in the Na(+)-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.
