Pancreatic agenesis with congenital diabetes mellitus (case study).

3. Case Summary
Five years old boy ………
• he is a know case of DM diagnosed at the age
of one week when he presented with polyuria
and weight loss in spite of excessive feeding.
• from that time he was on insulin therapy but
with out control.

4. • Since birth the patient have abdominal
distention and frequent passage of bulky,
offensive stool with out knowing diagnosis.
• They consulted many doctors and performing
many investigations but with out benefit.

5. • the boy frequently admitted to hospital
because of hyperglycemia and dehydration
but no one can make him under control.
• Before six months; he admitted to our
hospital in ICU as a case of hyperglycemia and
dehydration again in addition to septesemia.

6. • His Family history was essentially
unremarkable and was up to date on his
vaccination schedule.

7. Primary investigations
• Many investigations done to the patient:
• but all added nothing to his diagnosis.

8. Diagnosis ???
• They insist on Congenital DM and put the
patient on:
• Supportive measures and
• Insulin
• Vancomycin , ceftriaxone
• But the condition did not improve

9. On further enquiry
• By complete assessment of patient regarding
history, physical examination and farther
investigations .
• History:
polyuria, poly depsia and poor weight gain since
birth,
This is Diabetes Mellulites.
frequent passage of bulky, offensive stool and
later with failure of gaining weight
This is ; Malabsorption syndrome

10. On further enquiry
• On examination
• he was conscious, pale with and abdominal
distension.

11. On further enquiry
• Biochemical and haematological investigations
• Total serum protein: 33 g/dL Albumin: 19 g/dl
• RBS: 450 mg/dl
• Serum. Cholesterol 122 mg/dl
• Stool exam: fat droplets ++,
• Urine exam, sugar +++, ketones nil.
• Serum insulin: 0.04 μg/L with a normal range of 0.2–
0.62 μg/L.
• C-peptide: 0.02 ng/mL (normal range: 0.8 to 4.2 ng/mL
• The rest of lab. tests unremarkable.

12. Abdominal ultrasound & CT scan revealed agenesis of
pancreas,

13. Diagnosis…..

14. Treatment:
• Interventions:
• Following the diagnosis of diabetes, insulin
replacement therapy was initiated. The patient's blood
glucose level was monitored, and the insulin dosage
was adjusted accordingly.
• Outcome and follow-up:
• The patient's blood glucose levels gradually
normalized after insulin treatment and were
subsequently maintained with intensive insulin
therapy. Treatment for FTT and Diarrhea was provided
by pancreatic enzyme replacement.
• Now he is better …

15. Lessons
• Agenesis of the dorsal pancreas should be
considered in a young patient diagnosed
with diabetes who presents with
obvious diabetes-related complications
inconsistent with the course of the disease or
a history of other congenital anomalies.
• We recommend the routine use of computed
tomography or magnetic resonance imaging
when examining young patients with diabetes.

16. Some theory
• Agenesis of the dorsal pancreas is a very rare
condition, Similarly, reports of this condition are
very rare, with fewer than 100 cases described in
the literature since the initial report in 1911
• The exact etiology of agenesis of the dorsal
pancreas remains unknown.
• although it may be associated with autosomal
dominant or X-linked dominant inheritance or
retinoic acid and hedgehog signaling pathway
alterations.

17. Some theory
• This condition usually manifests with abdominal pain
or pancreatitis, although some cases are
asymptomatic.
• Approximately 50% of affected patients with this
disorder present with hyperglycemia or various other
anomalies.
• Agenesis of the dorsal pancreas is often reported in
combination with other anomalies such as polysplenia
syndrome, congenital heart defects (e.g., septal
defects), tetralogy of Fallot, or pulmonary artery
stenosis,although no such deformity was observed in
the present case

18. Some theory
• Imaging modalities are useful for the
diagnosis of agenesis of pancreas. Both MR
and CT imaging can facilitate diagnosis and
differentiate this condition from other
disorders.
• Treatment: for hyperglycemia; with intensive
insulin therapy.
• Treatment for Malabsorption; by pancreatic
enzyme replacement.

19. THANKS FOR YOUR
ATTENTION