bijjar,patel and others - newboy

[ArchivalUser]

can u plz post CCS for

Downs Syndrome Baby with Duodenal Atresia


A N D


Spouse abuse with Colles #

[ArchivalUser]

DOWN SYNDROME with DUODENAL ATRESIA

You are called to see a 12-hour old female neonate who has been difficult to feed. It was delivered 12 hours ago without complications.

You are called to see a 12-hour old female neonate who has been difficult to feed. It was delivered 12 hours ago without complications. The Apgar scores are 6 and 8 at 1 and five minutes respectively. The child turns blue and coughs at each attempt to feed. The nurse also informs you that the child has flat nasal bridge and low set ears.

The differential diagnosis at this stage should include the following:
· Downs syndrome
· Neonatal hypoglycemia
· Congenital hypothyroidism
· Duodenal stenosis (Atresia)
· Brain lesions (edema, hemorrhage or cerebral hypoxia)

Physical Examination
The physical examination should be complete, because other associated conditions (e.g. cardiovascular disorders) may co-exist. Thus, the following areas should be examined:
· General Appearance
· Skin Examination
· HEENT/Neck Examination
· Breast Examination
· Chest/Lung Examination
· Cardiovascular Examination
· Abdominal Examination
· Genitalia
· Rectal Examination
· Extremities Examination
· Neuropsychiatric Examination

Physical Examination: Essential Findings
· Generalized hypotonia
· Craniofacial and musculoskeletal features suggestive of Downs syndrome
· Harsh, loud systolic murmurs suggestive of ventricular septal defect
· No respiratory distress
· Normal female genitalia

Notes
It is obvious that this case is Downs™ syndrome. You now need to place orders.

Initial Labs
The goal is to confirm the diagnosis, rule out the differentials and prevent complications.

ORDERS:
· Random blood sugar (RBS)
· Chromosomal analysis
· BMP
· Chest X-ray, PA
· Abdominal X-ray
· Pulse oxymetry; Arterial blood gas analysis (ABG) if abnormal
· Echocardiography, transthoracic
· Complete blood count (CBC)
· Urinalysis
· Serum TSH
· Serum T4/T3
. LFTS( or bilirubin levels)

You need not investigate this patient for cerebral disorders (MRI/CT) at this stage because, as shown above, they are unlikely causes of the patient™s problem. Having placed the necessary orders, you can begin further management.

Initial Therapy
· Nothing by mouth (NPO) (because patient is having feeding difficulties)
· Nasogastric suction (this prevents aspiration of gastric contents

Results
· X-ray abdomen with no air distal to duodenum
· Echocardiogram shows ventricular septal defect (VSD)
· Chromosomal analysis confirms Down™s Syndrome
· Hypoglycemia from test
· The other tests are normal

Next step in Management
· Intravenous 10% dextrose water
· Refer patient, pediatric surgery (reason: probable duodenal atresia)
· Refer patient, pediatrics (reason: Downs syndrome)
· Refer mother, medical social worker (reason: mother needs support because of baby)/Counseling for mother
· Cardiology consultation (reason: ventricular septal defect)
. Genetics Consultation

Reassessment
Patient doing well; consultants will see as soon as possible

Final diagnosis: Down™s syndrome with duodenal atresia

Note: Please add or subtract as per your case

GL

[ArchivalUser]

prdiya
The Sceniario you described is this real exam one OR you made it OR in some book, any how quite informative, but newboy asked the question about Duodenal Atrasia, in your description you added duodenal atrasia but it is also with Endocardial Cusion Defect features, so that's why I was wondering either USMLE will asks us two features of Down Syndrome in one case, which I doudt.

Here I have the one case which is real Exam one.

Your are called in Regular NB nursery to see a 12 hour old infant who is continiously vomiting (intractable), the neonate is FTAGA NSVD, with an APGAR of 9&9.

Your approach
Immediate and first steps

(Remember whenever you are called in NB it is Semi emergency, and approach should be accordingly)

Accucheck
Pulse Ox
(results, 60mg/dl and 94%)
P/E
General
Skin
HEENT
Chest
CVS
Abd.
Rectal

(Results, AFO but mildly depress, Feautres of Down Syndrome, the rest normal)

NPO
I/V access
I/V fluid (bolus of N/S, stat and than maintain on D10%)
CBC
Basic metabolic panel
UA
Blood Cx
&
Urine Cx (again whenever you are called in NB Nursery, the first and immediate D/D is, New born Sepsis which could be ruled out with this last four tests)
X Ray Abomen stat

(Results, X Ray abdomen shows Double bubble sign, all other test normal except mild azotemia)

ORDERS
Change Location to NICU
Pass NG tube
Surgical consult (reason Down baby with Duodenal Atrasia, pt is accepted by surgery )
Blood type and cross
Pt
ptt/inr, BT
Echo (to rule out EndoCardial cushion defect)
Consent for surgery
Chromosome analysis
Genetic consult
Family Counselling

I am sure your time will be almost finished by now, if you have time you can add any order which pertains to Down Syndrome.

[ArchivalUser]

newboy
any question any comment ?