Keywords
congenital diaphragmatic hernia - hemidiaphragm agenesis - sickle cell disease - intercostal
muscle flap - ectopic kidney - vertebral fusion
Adult congenital Bochdalek hernia (BH) is uncommon and usually confined to the pediatric
population with an incidence of 1:3,000 live births, 0.17% on abdominal computed tomography,[1] and prevalence of 1 in 2,000–7,000 autopsy study.[1]
[2] Etiology is explained by the incomplete fusion of pleuroperitoneal folds during
the 9th–10th weeks of pregnancy, leading to the persistent pleuroperitoneal canal.
Though the left side predominates, the right side is frequently seen in adults and
detected incidentally (5%) during other investigations.[3] In a young adult with sickle cell disease, we now discuss the rarity and management
of BH, associated ectopic kidney, and vertebral fusion with partial diaphragmatic
agenesis.
Case Report
A 24-year-old female with a sickle cell disease presented with mild chest pain, an
episode of vomiting, and no history of trauma or chronic illness; she was hemodynamically
stable, afebrile with regular abdomen examination. Chest examination revealed decreased
left air entry, chest X-ray showed left consolidation, and ultrasound thorax confirmed
the presence of bowel loops and left kidney within the thoracic cavity. Contrast-enhanced
computed tomography (CECT) of the thorax and abdomen showed colon, small bowel, left
kidney in the thoracic cavity with scoliosis (Cobb angle of 24 degrees), fused 12th
thoracic and 1st lumbar vertebral bodies, and displaced left diaphragmatic crus and
its defect ([Fig. 1A], [1B]).
Fig. 1 (A) Contrast-enhanced computed tomography (CECT) of the thorax and abdomen showing bowel
loops in the left thoracic cavity with ectopic kidney and thoracolumbar scoliosis.
(B) CECT thorax showing displaced left diaphragmatic crus (as indicated by an arrow
in green) with significant defect.
The patient received preoperative antibiotics, nebulization, and bowel preparation
with normal blood investigation. Following left thoracotomy, the thoracic cavity was
accessed through the fifth intercostal space, which contained a hypoplastic lung,
the colon, small intestine up to the duodenal jejunal flexure, and left kidney with
no hernia sac. The normal colonic mesentery was adherent to the aorta and pericardium
([Fig. 2A]). Following vascular adhesiolysis and laparotomy, intrathoracic contents were transpositioned
to normal anatomical positions. Primary partial diaphragmatic repair, pedicled intercostal
muscle flap raised between the sixth and seventh ribs, followed by partial excision
of the sixth rib obliterated posterolateral defect. Polypropylene mesh was placed
over the primary repair and around the flap with Prolene 3-0 to provide diaphragmatic
stability ([Fig. 2B]). A single drain was placed in the chest and abdomen, followed by a closure. Mild
splenomegaly was not an indication for splenectomy. Extubated patient was maintained
nil by mouth for 24 hours. She received one unit (350 mL) of packed red blood cells
and Ryles tube feeding with fluids on the first and second postoperative days followed
by oral feeds and a soft diet from the third and fourth days. The postoperative course
was uneventful, with chest and abdomen drains removed on the eighth and ninth days.
CECT thorax and abdomen repeated after 2 weeks revealed minimal pleural effusion with
an intact diaphragm that resolved with subsequent follow-up visits and no recurrence
([Fig. 3]) with CECT obtained at the third and sixth months.
Fig. 2 (A) Intraoperative finding: mesentery of bowel loops adherent to the adventitia of aorta
and pericardium with no bowel ischemia. (B) Diaphragmatic reconstruction: polypropylene mesh placed over primary repair and
intercostal flap rotated toward diaphragmatic floor.
Fig. 3 Postoperative contrast-enhanced computed tomography showing neo-diaphragm with minimal
pleural effusion and no recurrence at 14 days.
Discussion
Czech anatomist Vincent Alexander Bochdalek first described congenital adult diaphragmatic
hernia in 1848.[1] Due to varied clinical presentations, diagnosis is late.[4] Volvulus, strangulation, organ perforation, and tension pneumothorax require emergency
intervention.[4] Contents include omentum (92%), splenic flexure of the colon (58%), stomach (25%),
spleen and liver.[3]
Displaced diaphragmatic crus is explained by the mal-development of at least three
of the four parts of the hemidiaphragm anlage, the unpaired ventral portion from the
septum transversum, the unpaired dorsolateral portions from the pleuroperitoneal membranes,
or the medial portion from persisting parts of the primary mesentery.[5] Associated ectopic intrathoracic kidney accounts for 5% with a prevalence of < 0.01%
and the presence of vertebral fusion has been explained as a complex synchronous metameric
defect of somite and intermediate mesoderm.[1]
[6]
Surgical repair is the treatment of choice, either by thoracoscopic/laparoscopic approach
or by an open repair. We performed an open thoraco-abdominal approach as repositioning
of intrathoracic content into the abdominal cavity was not possible through the defect
as mesentery of the colon was adherent to the descending thoracic aorta and pericardium
as well as dense adhesions within the defect and adhesions confined to the abdominal
wall restricted manual reduction. Acute splenic sequestration crises are a complication
of sickle cell disease. However, as there is a lack of evidence from the randomized
control trials showing that splenectomy improves survival and decreases morbidity
in patients with sickle cell disease, hence splenectomy was not considered.[7]
Our case is unique in presentation. First, its association with intrathoracic ectopic
kidney has been reported in less than 0.25% of the cases and further association of
intrathoracic ectopic kidney with vertebral fusion has been reported only once in
the literature.[6]
[8] Second, with only 10 cases of partial diaphragmatic agenesis in adults reported
to date, this case adds associated rarity in the form of asymptomatic presentation,
absent sac with the adhesion of mesentery to the thoracic aorta, pericardium, and
reconstruction with pedicled intercostal muscle flap in the patient with sickle cell
disease, which has not been reported in the literature.
Conclusion
Adult congenital BH is rare, can have unusual presentation, and perioperative management
in sickle cell disease is challenging, requiring multimodal management.
