Patient Review Referring Physician: Dr. Pedro Sanchez Gender: Male - - PowerPoint PPT Presentation

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Feb 14, 2024 600 likes •673 views

Patient Review Referring Physician: Dr. Pedro Sanchez Gender: Male Current Age: 11 Ethnicity: Hispanic Patient Medical History Patient is a 11 year old male with multiple congenital anomalies including Pierre Robin sequence, sagittal

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Patient Review

Referring Physician: Dr. Pedro Sanchez Gender: Male Current Age: 11 Ethnicity: Hispanic

Patient Medical History Patient is a 11 year old male with multiple congenital anomalies including Pierre Robin sequence, sagittal craniosynotosis, intellectual disability global developmental delay, autism, optic nerve hypoplasia. He has an inoperable brain glioma defined as diffuse infiltrate of the right cerebellum, not present at birth. He was fed by mouth for the first 6 months but eventually required G-tube. He initially failed newborn hearing test and had bilateral myringotomy tubes placed and was found to have normal hearing at age 3. He had persistent low tone in the 1st year of life but was able to sit by 9 mos. He cannot walk independently and uses a wheel chair to get

around. He was found to have autism at 23mos, can understand almost everything

but does not communicate. He developed progressive scoliosis and required spinal fusion in 2012. He has chronic lung infections. He has a PDA and consistently low level of cortisol. He has progressive craniofacial change with shallow eye sockets and midface hypoplasia.

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Summary of Systems

System Phenotype Eyes/Vision Exophthalmos, bilateral prominent eye lids, shallow orbits. ENT/Mouth Non-dysmorphic ears, prominent philtrum, anteverted nose, depressed nose bridge Respiratory Trachea midline, tracheostomy in place, non-labored respiration. Cardiovascular Regular rate and rhythm. No murmur. Endocrine Borderline cortisol levels. Gastrointestinal Normal bowel sound. G-tube in place. Musculoskeletal Abnormal range of motion. Thin and decreased muscle bulk and low tone, scoliosis, cerebral palsy. Dermatological Diffuse hirsutism on face, arms, legs, back. Wrinkled palms and prominent fetal tip pads. Neurological Global developmental delay but appears alert, Autism. Hematologic/lymphatic Denies bleeding tendency. Denies pallor. Renal Denies dysuria. Denies urinary frequency. Allergic/Immunogenic Allergic to vancomycin, Reglan, Risperdal.

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Other information available

Dysmorphic Features: sagittal craniosynotosis, dolicocephaly, micrognathia, proptosis, midface hypoplasia, diffuse hirsutism, soft wrinkled hands, thin extremities, low muscle tone. Previous Genetic Testing: N/A Previous Studies: N/A Environmental Triggers: N/A Other: In 1st trimester, mother’s pregnancy was significant for vaginal bleeding concerns early, developed gallstone and lost weight. She took no medication but prenatal vitamins.

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Family History

35 yo mother G3P2 (SAB 14 weeks), 1 maternal ½ sister AAW.
55 yo father, 2 paternal ½ siblings (35 and 31, pregnant). Father

has a distant cousin with special needs and one with Down

syndrome. Father’s grandfather died in 70’s of stomach cancer.
Both parents are healthy without issues.
No history of learning issues, early death or birth defects. Non-

consanguineous.

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SLIDE 5

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Pedigree

(Please indicate which family members were sequenced)