A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.

OBJECTIVES: Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database. Here, we describe the case of a Japanese child with odonto-hypophsphatasia (odonto-HPP) and a novel ALPL variant. CASE PRESENTATION: At the age of 2 years and 1 month, he prematurely lost one deciduous tooth, with the root intact, when he fell and hit his face lightly. Three months later, he lost another adjacent deciduous tooth without incentive. His serum alkaline phosphatase (ALP) level was 72 U/L. His urine phosphoethanolamine (PEA) level was extremely high at 938 µmol/mg·Cre. The serum pyridoxal 5'-phosphaye (PLP) level was 255.9 nmol/L. Based on the clinical symptoms and laboratory findings, the patient was clinically diagnosed with odonto-HPP. Genetic analysis of the ALPL gene revealed a heterozygous variant (NM_000478.6:c.1151C>A, p.Thr384Lys). CONCLUSIONS: We report a case of odonto-HPP with a novel variant in the ALPL gene. HPP is a rare disease, and the heterozygous mutation in the ALPL gene highlights the novelty of this case.

Adenocarcinoma arising from aberrant pancreas in the stomach.

We report herein a rare case of malignant transformation of aberrant pancreas in the stomach, associated with gastric outlet obstruction. A 58-year-old woman was admitted to our hospital, complaining of vomiting. Although barium meal examination and gastric endoscopy showed marked pyloric stenosis, the biopsy specimen obtained from the stenotic site revealed regenerative mucosa without malignancy. Abdominal computed tomography and endoscopic ultrasonography (EUS) also could not detect the cause of the obstruction. Histopathological examination of the surgically resected specimen showed the malignant transformation of aberrant pancreas in the stomach. It should be noted that one of the causes of gastric outlet obstruction may be aberrant pancreas or its malignant transformation.

[Septic shock associated with pyogenic liver abscess rescued with percutaneous transhepatic abscess drainage].

We report a case of septic shock associated with pyogenic liver abscess rescued with percutaneous transhepatic abscess drainage (PTAD). A 70-year-old male patient was admitted to our outpatient department of internal medicine with general fatigue, dullness of bilateral shoulders and extremities, appetite loss, weight loss, headache, and vertigo. Laboratory tests showed severe inflammatory indications, anemia, and high values of hepatobiliary enzymes and blood sugar. Abdominal ultrasonography and enhanced CT showed a pyogenic liver abscess of 10 cm in diameter at S 6-7 in the right hepatic lobe. The patient's condition deteriorated suddenly that night. From the results of abdominal ultrasonography and enhanced CT, we made diagnosis of septic shock associated with pyogenic liver abscess. Emergency abdominal ultrasound-guided PTAD was performed under local anesthetic. Postoperatively, the antibiotic was infused daily through a PTAD tube into the liver abscess space. He recovered and his laboratory tests improved gradually. On abdominal ultrasonography and enhanced CT, the liver abscess disappeared by 19th postoperative day, and PTAD tube was removed. There was no complication during PTAD treatment. We conclude that patients in septic shock should undergo further examinations immediately and treatment of the infected tissue should be started as soon as possible. PTAD may be an additional effective procedure for pyogenic liver abscess in septic shock. Furthermore, local antibiotic lavage through a PTAD tube into the liver abscess space may be an important supplementary method in the management of the illness.