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Clinically affected; diagnosed at age 2; symptoms onset at birth; mother was on oral contraceptive pills during conception; mother smoked for first 7 weeks of pregnancy; non-stress test showed low heart rate without any variation at 155 beats per minute; fetal movement described as slightly decreased; high risk pregnancy due to mother's recurrent miscarriages of unknown cause; born at 36 weeks via C-section; low birth weight; abnormal length, and head circumference; jaundiced for two weeks but did not require treatment; vertical strabismus; puffy eyelids; dry eyes; somewhat flat nasal bridge; anteverted nares; tented upper lip; abnormal face shape; global developmental disorder; seizures; hypotonia; movement disorder; ataxia; chorea; delayed fine and gross motor skills; delayed speech and language development; severe intellectual disability; difficulty cruising around furniture, standing without support, and moving in and out of positions; increased susceptibility to fractures; joint hypermobility; delayed skeletal maturation; reduced bone mineral density; history of hepatocellular carcinoma; cirrhosis; constipation; splenomegaly; reactive airway disease; childhood obstructive sleep apnea syndrome; periodic limb movements in sleep; chalazion that required one removal; severe pyogenic granulomas of superior palpebral conjuntiva; abnormality of retinal pigmentation; abnormality of the cornea; ptosis; alacrima; hyperopic astigmatism; low iron levels; increased serum lactate and insulin levels; concentration of tetrahydrobiopterin in cerebrospinal fluid was low; history of "infantile spasms", EEG does not demonstrate hypsarrythmia but clinically looks like spasms; MRI at 6 months old was normal; MRI at 2 years showed moderate cerebral volume loss, thin corpus callosum, degree of myelination slightly underdeveloped for age, mild deficit of NAA in pons and left centrum semiovale, marked mucosal inflammation in paranasal sinuses, widened cerebral and cerebellar subarachnoid spaces, ventriculomegaly, enlarged sylvian cistern and fossa interpeduncularis; neurology consult noted inconsistent vertical gaze; intraocular pressure 16 bilaterally; ASSR findings indicate that there may be high frequency hearing loss in both ears; ABR findings indicate transmission delay from auditory nerve through the auditory brain stem; 18 breaths per minute; BMI 16 kg/M2; head circumference 49 cm; genetic testing revealed compound heterozygous mutations L314P and R390P in NGLY1 gene; TACE procedure; orthotopic liver transplant in 2014 for cirrhosis, developmental delay, constipation, although patient never had very dry eyes or hypohydrosis, was able to make more tears and sweat after transplant; cholecystectomy; received ACTH trial in 2013 which was successful in stopping overt seizures; sensitivity towards ativan; rash occurred with amoxicillin and cefprozil; slow metabolizer of morphine; current medications include: keppra 500 mg/tab 250mg/500mg QAM/QPM respectively, prograf 05mg/ml 5.4 ml twice daily, cellcept 1.5 ml QAM (weaning); Septra 40mg/200mg per 5 ml 7.5 ml = 60/300mg QPM, vitamin B6 50 mg/tab 1 tab = 50mg QPM, aspirin 81 mg/tab 0.5 tab = 40 mg QPM, miralax 2 teaspoons Qday, melatonin 1mg/tab 3 tab QHS; physical, occupational, and speech therapy; mother had brother who died at age 5 of leukemia; mother previously had hyperthyroidism now hypothyroidism; mother (GM26603 B-lymphocyte; GM26604 fibroblast) and father (GM26605 B-lymphocyte; GM26606 fibroblast) also in repository; see GM26602 for fibroblast.
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