Nov 09, 2017

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). She recently has had seizures which are being controlled by medication.

• Low muscle tone (severe muscular hypotonia)
• Muscle weakness
• Weak facial muscles (myopathic facies)
• Poor head control
• Impaired voluntary movements (dyskinesia)
• Intellectual disability
• Severe global developmental delay
• Low blood glucose levels (hypoglycemia)
• Difficulty growing after birth (failure to thrive)
• Feeding difficulties
• 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)
• Abnormal breathing (stridor)
• Breathing dysregulation
• Hand clenching
• Decreased urine output

• Chloral hydrate – sleep problems
• Domperidone and Omeprazole– reflux
• Gabapentin – excessive sweating
• Lamotrigine– seizures

• Polyethylene glycol–  constipation
• Melatonin –sleep problems

• Congenital disorder of glycosylation
• Fatty acid oxidation disorder
• Metabolic condition
• Mitochondrial disorder
• Pompe disease
• Spinal muscular atrophy