Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome

Table 1

Age-related clinical features and laboratory findings of our patient.

Age	Clinical features	Laboratory findings
Neonatal life	(i) Birth weight: 10^th centile; (ii) Height: 50^th centile; (iii) Genital abnormalities: (bilateral cryptorchidism, small hypoplastic scrotum, and extreme microphallus); (iv) Bilateral testicular dysgenesis	(i) Low testosterone levels; (ii) Male karyotype (46,XY)
6 months	(i) Failure to thrive (weight < 3^rd centile, height: 25^th centile)	(i) Increased liver enzymes; (ii) Fatty infiltration of the liver (abdominal ultrasound)
12 months	(i) Failure to thrive (weight < 3^rd centile, height < 3^rd centile)	(i) Remarkably elevated liver enzymes; (ii) Steatohepatitis in liver biopsy; (iii) Microcytic anemia (without iron deficiency); (iv) Normal organic acid urinary analysis (including 3-methylglutaconic acid)
18 months	(i) Failure to thrive (weight < 3^rd centile, height < 3^rd centile)	(i) Brain MRI (small areas of increased signal symmetrically bilaterally in the posterior part of the pons)
2 years	(i) Failure to thrive (weight < 3^rd centile, height < 3^rd centile)	(i) Increased 25(OH)Vit D levels, low 1.25 (OH)2Vit D levels
3-4 years	(i) Failure to thrive (weight < 3^rd centile, height < 3^rd centile); (ii) Mild delay in speech development	(i) Hypercalciuria
5 years	(i) Delay in conquering psychomotor milestones; (ii) Mild ataxia	(i) Dilated cardiomyopathy with preserved ejection fraction; (ii) Prolonged QT interval; (iii) DEXA: osteopenia
7.5 years (after starting a special diet)	(i) Weight: 3^nd−15^th centile, height: 3^rd centile	(i) Normal levels of 25(OH)Vit D and 1.25 (OH)2Vit D; (ii) Normal hemoglobin levels