SEPSECS

At birth, the patient had low muscle tone (hypotonia) and poor head control. She was initially able to breast feed, but stopped at the age of 7 months. At 8 months, an MRI showed abnormal brain findings (cerebellar atrophy). She was admitted to the hospital at the age of 10 months for sleep problems and abnormal breathing (stridor).

Currently the patient has developmental delay and still struggles with head control. She does recognize her mother and has a social smile, but appears to have vision impairment (cortical visual impairment). She also sweats a lot and needs a G tube for feeding. At times, she has low blood glucose levels (hypoglycemia).

Some of her other features include:

• Muscle weakness
• Weak facial muscles (myopathic facies)
• Impaired voluntary movements (dyskinesia)
• Intellectual disability
• Difficulty growing after birth (failure to thrive)
• Poor appetite
• Sleep disturbance
• Irritability
• Abnormality of specific brain regions (cerebellar hypoplasia and atrophy, cerebral hypomyelination, hypoplasia of the corpus callosum)
• Abnormal electrical activity of the brain (EEG with persistent abnormal rhythmic activity)
• Abnormality of the eye (abnormality of the retina and optic disc)
• Repetitive eye movements (nystagmus)
• Abnormality of vision (reduced visual acuity and cortical visual impairment)
• Eyes turned outward (exotropia)
• Drooped upper eyelids (ptosis)
• Breathing dysregulation
• Hand clenching
• Decreased urine output