
síndRoMe aCRoCalloso asoCiado a diabetes y baJa talla: a pRopósito de un Caso
REVISTA MÉDICA DE ROSARIO 87
Introducción
El síndrome acrocalloso, descripto por primera vez
en 1979 por Albert Schinzel,
1
es una patología extrema-
damente infrecuente producida por una alteración ge-
nética de herencia autosómica recesiva si se localiza en el
gen KIF7 o de herencia dominante debido a mutación
en las gametas si se sitúa en el GLI3; aunque también
se han descripto casos de incidencia esporádica. Ambas
proteínas, la KIF7 y la GLI3, son codicadas por sus
genes homónimos y participan en el desarrollo celular
del cerebro y las extremidades desde el comienzo de la
vida embrionaria.
2
Las principales características de este síndrome apa-
recen en el nacimiento y son: retraso mental severo, age-
nesia del cuerpo calloso, polidactilia, hipertelorismo y
frente ancha prominente.
3
ACROCALLOSAL SYNDROME ASSOCIATED WITH DIABETES AND SHORT STATURE: PURPOSE OF
A CASE
Abstract
Introduction: acrocallosal syndrome is an extremely rare pathology caused by a genetic alteration. e main characteristics
are: severe mental retardation, agenesis of the corpus callosum, polydactyly, hypertelorism and a prominent wide forehead.
Neonatal respiratory distress and intercurrent infections are the main cause of mortality.
Clinical case: male patient born at term to non-blood-related parents. His height was 45 cm and his weight was 3,390
kg. On clinical evaluation he presented: syndactyly in hands and feet, bilateral foot valgus, wide forehead, short neck and
bilateral cryptorchidism. Neonatal screening was normal. During his evolution he showed delay in the acquisition of
neurodevelopmental patterns. At 15 months he was hospitalized due to a febrile seizure caused by bronchitis. A cranial
MRI was performed, which showed a marked thinning of the corpus callosum without sellar alterations.
e patient is evaluated by Endocrinology due to short stature and laboratory tests with altered fasting blood glucose. Given
the suspicion of a congenital syndrome, consultation was requested with the Medical Genetics Service, which identied a
heterozygous deletion from exon 2 to exon 15 of the GLI3 gene compatible with “acrocallosal syndrome.”
e hormonal axes were always normal except for the somatotrophic axis where he presented a low level of IGF 1 and an
arginine test stimulation without achieving growth hormone, thus diagnosing its deciency.
e glycemic proles worsened until a diagnosis of diabetes was reached, so it was decided not to begin replacement
treatment with recombinant somatotropin due to its insulin desensitizing eect.
Conclusion: our patient had a diagnosis of acrocallosal syndrome, a pathology that is extremely rare. ere are some
characteristics that coincide with previous literature, such as epilepsy, cryptorchidism, and respiratory infections. What
diers is the relationship with the consanguinity of the parents (they are not related).
Diabetes was diagnosed possibly in relation to the mutation present in the GLI3 gene since it is described as a regulatory
element of carbohydrate metabolism. In addition, he presented isolated idiopathic growth hormone deciency, but he had
not yet started growth hormone due to his alteration of carbohydrate metabolism.
It is considered important to deepen future research on the relationship of acrocallosal syndrome with diabetes and
somatotropin deciency.
Key words: acrocallosal syndrome, short stature, growth hormone, diabetes, syndactyly
Solo 37 casos fueron reportados en el mundo desde
la publicación original de Schinzel.
4
El pronóstico de la enfermedad depende principal-
mente del grado de hipotonía y del inicio temprano de
la epilepsia más que de las malformaciones faciales y de
las extremidades. El distress respiratorio neonatal y las
infecciones intercurrentes son la principal causa de mor-
talidad, constituyendo un 15 % de los casos.
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Caso Clínico
Paciente varón nacido por parto natural eutócico,
de 39 semanas de gestación, y que es el primer hijo de
padres sanos no consanguíneos. Su talla al nacer fue de
45 cm (pequeño para edad gestacional, score desvío es-
tándar (SDS): – 2,58) y su peso 3,390 kg (acorde para
la edad gestacional). A la evaluación clínica presentaba: