Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on MRI, first recognised in JS. The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. JSRD are classified in six subgroups: Pure JS; JS with ocular defect; JS with renal defect; JS with oculorenal defects; JS with hepatic defect; JS with orofaciodigital defects. JSRD follow autosomal recessive inheritance.CASE REPORT
A13 years old boy was referred to our hospital for short stature. At the age of 2 years he was diagnosed with JS by clinical typical manifestations and by an MRI. Family history was negative for short stature and parental pubertal timing was within normal limits. The anthropometric measurements showed weight 48.500 kgs and height 134 cms. His height for age was below 3rd percentile (CDC) and weight for age was between 25th-50th percentiles (CDC). The mid parental height was 165 cms. Penis and pubic hair development were Tanner stage 2. Investigations showed that blood glucose, renal function test, liver function test, thyroid function tests and Tissue Transglutaminase Antibodies were all normal, while Testosterone was below the normal ranges (33,4 ng/dl; normal ranges 241–900 ng/dl). The left hand X ray showed a delayed bone age. Using GH stimulation testing with Arginine and Clonidine GH deficiency was confirmed, infact peak GH levels were 0,43 ng/ml and 2,99 ng/ml, respectively. Therefore, recombinant Human GH was introduced (2 ng a day for 6 days in a week). By a clinical and laboratory follow-up, an improvement of his growth was noticed (growth velocity 6 cm in 6 months).Conclution
JS is a very variable condition and the full spectrum of symptoms has not yet been determined. Several conditions have been described in which characteristics of JS are present in addition to other findings. GH deficiency is not a common finding, but it can be found in the spectrum of JS and JSRD. Patients with JS need a multidisciplinary approach and a clinical and laboratory follow up to assess a multiorgan involvement and to identify hormone deficiency and, when it’s possible, to estabilish a treatment.