“Poop fail” A Case Discussion

Ryan Em C. Dalman MD MBA - 070070

Objectives

Present a case of Imperforate Anus Discuss the pathophysiology and

management of Imperforate Anus

Case PresentationPatient History

General Data

Live preterm baby boy, born via primary CS for non-reassuring-fetal-heart-rate pattern and IUGR, at 35 weeks AOG, born on January 25, 2011

Maternal and Birth History 30 year-old G3P1 (0121) Pre-ecclampsia Maternal PMH: unremarkable

History of Present Pregnancy 1st trimester

Premature contractions—admitted for 1 week, given duphaston

2nd trimester UTI by urinalysis 3x, given 7 days unrecalled

antibiotics for each week ~30weeks AOG, BP 150/100, started on methyldopa

250mg BID BP at home was uncontrolled

3 days PTA, (+) headache, methyldopa increased to 500mg q6h, but was persistent and was admitted

Family History

unremarkable

Case PresentationPhysical Exam

General Infant Size

BW 1040g BL 35 cm HC 28 cm AC 21 cm AS 9,9 MT 35 weeks, AGA

General PE Active, good cry Fontanels - flat Pupils - brisk Muscle tone -

normal Strength of

extremities- normal Extremities – no

deformities Chest expansion-

normal

Breath sounds clear and equal

Abdomen - soft Anus - imperforate Spine – intact Color - pink Cord - dry Skin - clear Pulses - strong CRT <3 sec Edema - none

Case PresentationCase Discussion

Admitting Impression

Imperforate anus

Differential Daignosis

None There is no differential diagnosis for

an imperforate anus

Imperforate Anus

Abnormal termination of the anorectum

Ranges from anal stenosis to persistence of cloaca

Most common defect Imperforate anus with a fistula between

the distal colon and urethra in boys or the vestibule of the vagina in girls

Imperforate Anus

Associated anomalies: VACTER-L Vertebral Anal Cardiac Tracheal Esophageal Renal Limb

Imperforate Anus

Male defects: Perineal Fistula – rectum opens in the

perineum Rectourethral bulbar fistula – rectum

communicates with the lower posterior portion of the urethra called bulbar

Imperforate Anus

Female defects: Perineal Fistula – rectum opens in the

perineum Vestibular fistula – rectum opens through

an abnormally narrow orifice located in the vestibule of the genitalia immediately outside the hymen

Imperforate Anus

Female defects: Rectovaginal Fistula – fistula between

rectum and vagina

Imperforate Anus

Pathophysiology Embryogenesis of malformations still

unclear Rectum and anus develop from hindgut

or cloacal cavity when lateral ingrowth of the mesenchyme forms the urorectal septum in the midline.

Bladder&urethra septum rectum&anal canal

Cloacal duct – small communications bet. these 2▪ Should close by 7th week of gestation

Imperforate Anus

Pathophysiology Ventral urogenital external opening

forms first; dorsal anal membrane opens later

Anal development▪ Fusion of the anal tubercles and an external

invagination (proctoderm) which deepens toward the rectum but separated from it by an anal membrane▪ Anal membrane should desintegrate by 8th

week

Imperforate Anus

There are known risk factors that predispose a person to have a child with imperforate anus

A genetic linkage is sometimes present

Diagnostics/ workup

CBC, blood typing and screening Presence of meconium in the urine

(males) Filtering with a gauze pad Urinalysis ▪ If a patient has perineal fistulas, vestibular

fistula, or a single patent orifice, UA is unot indicated

Diagnostics/ workup

Invertogram Cross table lateral on prone position

Diagnostics/ workup

Prone cross table buttocks with elevation

Diagnostics/ workup

Abdominal Ultrasound Visualized liver, gallbladder, kidneys Obscured pancreas probably due to

overlying bowel gas Undefined gallbladder Bilateral hyrocoele, both testicles within

scrotal sac Minimal ascites No frank congenital problems on solid

organs

Management

Medical NPO, IV hydration Treat other life-threatening co-

morbidities first If urinary fistula is suspected, give

broad-spectrum antibiotics

Management

Invertogram < 1cm: Immediate Anoplasty > 1cm: colostomy, then definitive

surgery after a few months Males with meconium in urine:

colostomy, then definitive surgery after a few months

Epidemiology

1 newborn per 5000 live births (US)

Prognosis

All patients with anorectal malformations with no significant life-threatening co-morbidities should survive Prognosis best determined by the

probability of primary fecal incontinence