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Figure 1: Postnatal first day no gas on abdominal X-Ray examina-tion.

She had severe bullous skin lesions on the trunk becau-se of epidermolysis bullosa and areas of aplasia cutis congenita on the neck and extremities (Figure 2A, B) and trisomy 18.

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Figure 2A, B: Aplasia cutis congenita ve epidermolizis bülloza.

On laboratory tests, WBC 18.4 (4-10x103 uL), hemog-lobin 17.4 (12.1-17.2 g/dL), sodium 137 (136-145 mmol/L), potassium 4.54 (3.5-5.1 mmol/L), chlorine 103 (98-107 mmol/L), and C- reactive protein <0.3 (0-5 mg/L) were normal. Abdominal ultrasonography revealed a 6x7 cm cystic lesion located intraperitone-ally, distinctly identifying the left diaphragma superi-orly in the midline of the abdomen, pushing the liver posteriorly. The identified cyst is primarily compatible with a mesenteric cyst. Its connection with the intesti-nal tract could not be demonstrated sonographically." The neonate was evaluated due to antenatal polyhyd-ramnios, and no gas was present on abdominal X-ray. The orogastric tube could not be advanced into the stomach, and it was determined that the contrast mate-rial did not pass into the stomach (Figure 3).

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Figure 3: Opaque material did not pass into the stomach.

The patient was operated on with a preliminary diagno-sis of esophageal and pyloric atresia. In the periopera-tive exploration, it was seen that the stomach was cys-tic and its wall was edematous (Figure 4A, B).

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Figure 4: Peroperative images (A) Cystic stomach, (B) Non-bilious serous fluid taken from the stomach.

Type 2 pyloric atresia was identified. The stomach was opened near the pylorus, and it was ensured that there was no passage to the pylorus. Gastroduodenostomy and gastrostomy were performed (Figure 4C).

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Figure 4C: Gastroduodenostomy, gastrostomy, Epidermolysis bullo-sa.

On the third postoperative day, while the proximal esophagus was aspirated, it was observed that the orogastric tube reached the stomach. At first, it was tho-ught that the reason for the orogastric not reaching the stomach was the disruption of the His angle after excessive gastric dilatation. The patient was started on oral feeding on the 5th postoperative day and passed stool thereafter (Figure 5).

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Figure 5: Postoperative seventh days, Orogastric tube.

On the 11th postoperative day, blood count was as follows: CRP 197.6 (0-5 mg/L), procalcitonin 1.26 (0-0.046 ug/L). Candida parapsilosis was isolated from the blood culture. On the postnatal 23rd day, WBC was 17.1 (4-10x103 uL), hemoglobin was 11.1 (12.1-17.2 g/dL), CRP was 86.4 (0-5 mg/L), and procalcitonin was 14.1 (0-0.046 ug/L). The neonate began to deteriorate and eventually developed septicemia secondary to aplasia cutis and epidermolysis bullosa and passed away on the 24th postnatal day.

EB is an inherited, autosomal recessive, bullous disease characterized by mucosal erosions and skin blisters. Numerous subtypes of EB are described and are divi-ded into three major groups: EB simplex, dystrophic EB, and junctional EB. Junctional EB is further divided into three subgroups: Herlitz, non-Herlitz, and junctional EB with PA, also known as Carmi syndrome¹².

Carmi syndrome is an extremely rare autosomal reces-sive genetic disorder characterized by the coexistence of PA and junctional EB, and with aplasia cutis congenita is characterized by localized or widespread absence of skin in approximately 28% of patients¹³. Our case was also diagnosed with aplasia cutis congenita. The prognosis of patients with Carmi syndrome is also poor, with mortality rates of up to 75%, mostly due to sepsis and renal failure, with a median time to death of 30 days¹³.

Carmi syndrome should be excluded in every neonate with PA, regardless of the degree of skin blistering. Similarly, when a patient presents with clinical signs of EB, as in our case, even if no gas is seen in the abdomen, the possibility of Carmi syndrome should be considered in newborns. It should be noted that a gas-free abdominal x-ray and pyloric atresia may mimic esophageal atresia. Carmi Syndrome follows an autosomal recessive inheritance pattern. Families should be provided with genetic counseling before having subsequent children. Families can be informed about Carmi syndrome if findings such as polyhydramnios, gastric enlargement, and lower-limb anomalies are detected during prenatal diagnosis with ultrasonography.

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