Case Presentation

Ali F. Ahrabi, MD

PGY-3 Pediatrics

Snapshots in Pediatrics

Part-1

Case

24 hr-old baby boy FT, NSVD, no complications Antenatal scans normal No FH of significance

Case-1

What next? CT head Chromosome

analysis Renal U/S Cranial U/S

Aniridia

WAGR association Significant risk of renal-GU anomalies

at birth Risk of developing Wilm’s Tumor Annual u/s

Case-2

13 y/o boy with 3 days of rash on legs Rash is progressive URI symptoms with tactile fever 10 days

ago

Case-2

What is the most likely diagnosis? ITP HSP Meningococcemia Erythema nodosum

Immune Thrombocytopenic Purpura

Primarily a disease of increased peripheral platelet destruction, with most patients having antibodies to specific platelet membrane glycoproteins

Diagnosis of exclusion Hemorrhage represents the most serious

complication; intracranial hemorrhage is the most significant. The mortality rate from hemorrhage is approximately 1%

Spontaneous remission occurs in more than 80% of cases

Treatment: CS + IVIG ± Platelet tx

Case-3

A 6 y/o boy is at Tanner stage 3 sexual development

Recent immigrant No medical hx available

Case-3

Case-3

What is the Dx? NF-1 Addison’s Disease Hypergonadotropic Hypergonadism McCune Albright Pityriasis rosea

Mc Cune Albright Syndrome

At least 2 features of the triad of: polyostotic fibrous dysplasia café au lait skin pigmentation autonomous endocrine hyperfunction

The most common forms of autonomous endocrine hyperfunction in this syndrome: gonadotropin-independent precocious puberty also hyperthyroidism, hypercortisolism, pituitary gigantism,

or acromegaly

McCune Albright Syndrome

Fibrous Dysplasia: Long bones, ribs,

and skull Small asymptomatic

areas detectable only by bone scan

Disfiguring lesions that can result in pathologic fractures and impingement on vital nerves

Case-4

15 y/o Girl, otherwise healthy Presents with progressive fatigue and

paleness for 2-3 months H/o heavy menses and dieting CBC 6.3> 6.7/19 <194

Case-4

What is the dx?

Megaloblastic anemia

B-12 defficiency Folic acid

Defficiency Secondary to severe

GI disease Congenital

transcobalamin defects

D. Latum infestation

Normal Peripheral Smear

Case-5

12 m/o baby boy Recent Immigrant Comes for physical No medical issues

Case-5

What is he at risk of?

What is the next step?

Sturge Weber Syndrome

Encephalotrigeminal Angiomatosis

Port-wine-stain (angioma) of the forehead and face

Ipsilateral meningeal hemangioma

Seizures, Developmental delay

Embryopathy not inherited

Case-6

5 y/o boy presents with 2-day hx of fever

Hx of 6 hospital admissions, 4 pneumonia

Height and Weight < 3rd centile

Case-6

What is the Dx?

Ataxia Talengiectasia

Autosomal recessive Progressive neurologic impairment, cerebellar ataxia Variable immunodeficiency with susceptibility to

sinopulmonary infections High IgM, low IgG and IgA Ocular and cutaneous telangiectasia Predisposition to malignancy

Case-7

2 hr old newborn baby girl FT, NSVD, No PROM, Poor antenatal

f/u APGARs 9/9 Baby with grunting and resp. distress Admitted to NICU

Case-7

Cystic Adenomatous Malformation

Adenomatous overgrowth of the terminal bronchioles

Often Prenatal diagnosis May remain undiagnosed at birth Usual presentation is respiratory distress in the

newborn period Can present with wheezing, prolonged cough

or frequent infections Fetal intervention available, lobectomy is the

most common postnatal procedure

Case-8

Newborn baby girl FT, NSVD, APGARs

9/9 Poor antenatal care What test next?

Case-8

Thrombocytopenia – Absent Radius Syndrome(TAR)

Rare disorder, Autosomal rececive Reduced platelet production Thrombocytopenia:

50% first week and 90% by 4 months Comes in attacks with normal plt count in between

Cow’s milk allergy in 47% of cases MR in 7% of cases Main DDx is Fanconi anemia (absent thumb)