Case presentation: Patient A.S.P, male, two years old, started with fever on June 2021 associated others viral symptoms. Three days after, he was admitted the pediatric emergency room hypotonia of trunk and limbs. He also referred pain paresis mainly in lower Transferred to intensive care unit evolved dysphagia worsening motor condition, maintaining only eye movement. required a nasoenteric tub...

Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features...

Introduction: Sodium leak channel, non-selective (NALCN) is an ion channel with important function in neuronal excitability. The activity of NALCN essential the balance rhythmic behaviors. Infantile hypotonia psychomotor retardation and characteristic facies 1 (IHPRF1), which occurs due to biallelic variants, leads dysmorphic characteristics global developmental delay. We hereby report 2 non-re...

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...

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...