Background: Arnold-Chiari malformations (CM), types I-IV, refer to a spectrum of congenital hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. CM-I is defined as tonsillar herniation of 35 mm below the foramen magnum and is the most common and the least severe of the spectrum.
Objective and hypotheses: Children with CM-I usually are asymptomatic and often diagnosed in adulthood, therefore early presentation of the disease with GHD is unusual.
Method: We report a case of a 3.5years old girl who was referred to our Department because of short stature and vomiting. She had a history of full term normal delivery without any trauma, birth weight 2510 g (−2.85sds) and length 48 cm (−2.08sds). At the age of 7 weeks she was hospitalized because of afebrile seizure with normal electroencephalography. She had also reduced food intake and frequent vomiting since infancy. A thorough investigation of malabsorption (hematologic and serum biochemical tests, barium swallow and esophagram test) was normal.
Results: At the age of 3.5 years she was referred to us because of short stature. Her height was 90 cm (<3rd percentile), her weight 13 kg (15th percentile), growth rate 3.9 cm/year and bone age 3 years. GH peak levels in two provocative tests were both <10 ng/ml and the rest endocrine evaluation revealed only increased TSH 5.6 μIU/ml with normal autoantibodies. A brain magnetic resonance showed pituitary hypoplasia and CM-1.At the age of 4 years she presented with dysphagia and frequent mild headaches and a decompressive surgery was performed to her due to syringomyelic cavity.
Conclusion: We report an unusual case of a toddler female with GHD and CM-I who presented with neurologic symptoms and growth retatrdation very early in life in contrast to majority of cases.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology