Joubert syndrome with variable features: presentation of two cases

Abstract

Joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasia. The second case was a 27-month-old boy who presented with episodes of hyperpnea, apnea, retinal dystrophy, and severe global developmental delay. Both patients had normal metabolic profile and prototype imaging of joubert syndrome including vermis agenesis and molar tooth sign.

Keywords: Developmental Delay; Joubert Syndrome; Molar Tooth Sign; Respiratory Irregularity.

Fig1(a, b,c,d).

Show imaging finding such as tooth molar sign (1a), vermis agenesis (1b), and face characters including frontal bossing, hypertelorism, bitemporal depression, open mouth, and nystagmus(1c); unilateral renal agenesis is another finding in this case (1d)

Fig2 (a,2b,2c)

Radio-imaging findings showing molar tooth sign, vermis agenesis, and cortical atrophy (2a); his face characters showing hypertelorism, open mouth, and temporal bone depression (2b); during hyperpnea, he brought out his tongue in panting posture with gazing (2c