A one-and-a-half-year-old girl was referred to the paediatric clinic for a right pelvic kidney and a white hair mattress in the frontal region.
1.
It comes from the first pregnancy of a healthy mother.
Controlled pregnancy without incidents, with normal ultrasound except for the right pelvic kidney.
Vaginal delivery, instrumented at 38 weeks gestational age.
Weight at birth of 2320 grams, Apgar 10/10.
Correct bilateral otoacoustic emissions.
Family history: white parents, healthy 25-year-old mother, healthy 36-year-old father, except for acromic spots in the middle third of both thighs, without having been diagnosed with any disease.
Other family history is unknown.
The patient is asymptomatic, her bowel rhythm and diuresis are normal.
Physical examination revealed a frontal white hair coil and an acromic macule of frontal form.
You have no other skin lesions.
The rest of the examination is normal, with psychomotor development to the normal moment.
Clinical suspicion of piebaldism is suspected, but complementary tests are requested to check that there are no anomalies or deafness that should be absent to confirm the clinical diagnosis of piebaldism.
Eye lesions were ruled out and auditory evoked potentials were performed, which were normal.
Abdominal ultrasound confirmed the presence of a right pelvic kidney without other abnormalities.
Analytical examination (positive and chemical) was requested, which was normal, and genetic study for mutation of the KIT gene (OMIM 164920) (4q12), which was negative.
A heterozygous variant was detected in the KIT gene of unknown clinical significance [c.2509G>A;(p.Ala837Thr)] (the father was also negative).
