Not all babies are well babies

Case 1 You are seeing a healthy appearing 1 day old term AGA female infant who had a cyanotic/choking episode overnight not associated with feeds. Since birth, infant has had a 2-3/6 holosystolic murmur without radiation, good pulses How would you explain this episode to the parents and what is your differential diagnosis?

Ddx Acute reflux episode Aspiration event Congenital heart disease Seizure Nothing What are your next steps?

Case 1 continued You decide to get a cardiology consult on the infant because of the murmur and ALTE-like episode Parents questions: – What is a murmur? – Will we be able to go home tomorrow? – Will she need surgery?

Case 1 continued Cardiology decides to get an ECHO. Fellow calls you in the middle of the ECHO to tell you that there are 2 homogeneous masses in the heart concerning for rhabdomyomas. What are rhabdomyomas? What are they associated with? What are your next steps?

Case 1 continued How do you tell these very anxious parents the news that their newborn baby may have tuberous sclerosis? Parents questions: – How did my baby get this? – Why was it not picked up prenatally? – Will she be like normal children? – Will she need surgery? – When will we be able to take her home?

Case Infant transferred to NICU for cardiopulmonary monitoring because of risk of arrythmias from rhabdomyoma Neuro consulted: MRI and EEG done. EEG showed no seizures. MRI showed Subependymal nodules and radial bands identified consistent with tuberous sclerosis Ophtho consulted: retinal astrocytomas bilaterally Genetics: TSC1 and TSC2 gene testing

Tuberous sclerosis Multi-system genetic disease Causes benign tumors to grow in brain, kidneys, heart, skin, eyes Affects the CNS system and can cause seizures, developmental delay Prevalence is 1 in 6,000 newborns Caused by gene defects: TSC1 and 2, most cases are sporadic but familial cases are autosomal dominant

Tuberous sclerosis No cure Anti-epileptics for seizure control Developmental support Surgery Prognosis is variable and depends on severity of symptoms

Case 2 Term AGA male newborn infant NSVD, uncomplicated pregnancy. Mother is concerned about the baby’s eyes. Spanish speaking family. What are the common parental eye concerns in a newborn? – Swelling – Tearing – Blood – Yellow color

Case 2 continued Exam is completely benign aside from cloudy corneas bilaterally

Case 2 continued Mother sees that you look concerned and asks you what you think is going on Her pressing question is whether or not her son can see. How do you respond?

Case 2 continued What is your differential for cloudy corneas in a newborn? – Trauma – Congenital Glaucoma – Congenital cataract – Congenital hereditary endothelial dystrophy (CHED) – Mucopolysaccharidoses – Sclerocornea - Sclerocornea is a congenital malformation of the cornea in which the limits of the cornea and sclera are indistinct

Case 2 continued Pediatric Opthalmology consult: confirms congenital glaucoma Genetics consulting: recommend genetic testing if desired Infectious disease: not infectious

Case 2 continued During morning rounds with a spanish interpreter, parents ask you if there is a diagnosis yet. The sub-specialists came and went. One of them spoke a little spanish but parents didn’t understand him Parents questions – What is wrong with our son? – How did he get this? – Is it an infection? – Can he be cured? – Will he be able to see? – Can he get surgery now? – We don’t understand, no-one in our family had eye problems – He was started on some drops and we don’t understand why.

Congenital Glaucoma Usually a sporadic disease (10-27% cases inherited) Inheritance is autosomal-recessive in some cases and multifactorial in others; the penetrance is variable The molecular defect in the majority of familial cases is in the cytochrome P4501B1 gene (CYP1B1) on chromosome 2p21

Congenital Glaucoma Goal: preserve vision Medication: Beta blocker and Carbonic anhydrase inhibitors decrease aqueous production Surgical intervention – Goniotomy – Internal goniotomy involves cutting into the abnormal trabecular meshwork, which causes the iris to drop back, deepening the angle recess – Trabeculotomy –It involves the insertion of a trabeculotome into Schlemm's canal to create an opening in the abnormal trabecular meshwork Prognosis - The visual prognosis for children treated with these procedures is good: 52 to 79 percent have visual acuity of 20/60 or better (fixed at 2 to 24 months)

Thoughts… Ask about parental support Inquire about support groups and online resources Always use an interpreter Be honest about what you know and what you don’t know Introduce yourself and the service you represent Let the parent grieve Check in with yourself