Female patient, 14 years old, daughter of non-consanguineous parents, less than 5 healthy siblings.
She had no relevant perinatal history with birth weight of 60 gr and height of 52 cm. She had normal psychomotor development at school according to her age.
The clinical picture began insidiously at 9 years of age with recurrent episodes of abdominal and lumbar pain, progressively associated with involuntary muscle spasms of the extremities, trunk, neck and face, presenting daily rest for approximately 2 months.
Approximately a year of evolution she consulted in her hospital of origin for intermittent and periodic diarrhea, with liquid stools up to 10 times a day, accompanied by stunting and progressive hair loss.
Two years after the onset of these symptoms, a varus deformity of both knees was installed very painful bone that limited gait, which led to surgical intervention of the right knee in two opportunities.
At 12 years of age, she was referred to our center, with a size of 133 cm and a weight of 28.5 kg both measurements were below 3 standard deviations for her age.
Their body mass index was 16.1 kg/m2; percentile 15 of the reference table14, with a normal proportion of body segments.
Mammary fold and pubic fold development corresponded to Tanner I. Her thin hair stood out with extensive areas of alopecia in the frontoparietal regions and hypertrophy of both masseter muscles.
Frequent muscle spasms were observed in extremities during physical examination, which sometimes caused anomalous postures of the limbs.
Blood count, hepatic and renal biochemistry, electrolytes, calcium and phosphorus in blood were normal.
Total blood creatine kinase was elevated to 290 IU/1 (VN<174).
1.
The clinical history reviewed the multiple skeletal radiographs of the patient by one of the authors, who showed metaphyseal alterations of different severity located in the different bone segments, asymmetrical hands, consistent with distal tibia-oil syndrome.
1.
An electromyography and nerve conduction velocity did not show any abnormalities, and a spinal magnetic resonance imaging revealed a small syringohydride at the level of dorsal segments T3 to T7, with no clinical expression.
A D-X test showed decreased excretion of xylose in urine 2.39 g/5 hr (VN: ≥ 4 gr/5 hr) consistent with malabsorption.
Upper gastrointestinal endoscopy showed abundant leukoplakia in the duodenum and vascul-lactate neutrophils, with a histological study of the mucosa describing a moderate increase in granulocytic lymphocytic infiltrate of the lamina propria.
Endomysial antibodies and occult blood test in Guayaco stool test were negative.
Endocrinological study was compatible with hypergonadotrophic hypogonadism suggesting ovarian failure.
Corticosteroid therapy with oral prednisone 1.5 mg/kg/day for 10 days was initiated. In the first week of treatment, a significant reduction in severity and frequency of painful muscle spasms that disappeared completely on carbamazepine was observed.
Diarrhoea, although decreased with steroidal treatment, did not improve significantly until 5 months when indicated to incorporate a diet with simple carbohydrate restriction.
Follow-up at 2 years (age: 14 years, 3 months, normal growth in Tanner stages II), with prednisone every other day in decreasing doses, showed absence of muscle spasms, disappearance of residual alopecia and diarrhea.
