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 dysplasi...

Masticatory and tongue muscle activity was examined polysomnographically in 14 patients with sleep apnea syndrome and six snorers. The all-night polysomnographic recordings included electromyograms (EMG) of the genioglossal, the masseter and the inferior head of the lateral pterygoid muscles, nasal airflow and thoracoabdominal respiratory effort. The apneas were defined and classified into thre...

Case presentation: A previously healthy 3-year-old girl was admitted with a history of loss developmental milestones since 18 months age. So far, only language delay had been noticed. It evolved from then on, frequent falls, incoordination, and truncal hypotonia. Throughout the next year, she lost ability to walk. During same began have episodes tonic seizures, partial control after introductio...

Joubert syndrome (JS) is a rare autosomal dominant gene disorder that heterogeneously inherited and manifests itself as hypotonia, ataxia, breathing abnormalities, developmental delay, intellectual disabilities, oculomotor apraxia, brain malformation [1-3].

Case presentation: AMD, 12 year-old male presented with developmental delay starting at 4 months-old, motor difficulties, hypotonia, significant weight gain and 2 episodes of febrile convulsion. Unplanned pregnancy a non-consanguineous marriage. Delivery 7 months pregnancy, APGAR 9/10, no further complications presented. Physical examination showed more pronounced hypotonia on upper limbs in co...

Introduction: The neurological sequelae are result from the brain damages occasioned by pathologies that affect central nervous system and/or peripheral resulting in malfunction, limitations and physical cognitive incapacities. Among sequels found muscle weakness, hypertonia, hypotonia, limited range of motion, difficulty transferring walking, sensory loss, incoordination postural instability. ...