Adenosine Kinase Deficiency: Report and Review.

Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.

Survival Outcome of Pulmonary Metastasectomy Among Patients with Sarcoma and Colorectal Primary Cancers: A Single Institute Experience.

BACKGROUND: One of the most common organs targeted by metastatic malignancies are the lungs. In the field of surgical oncology, pulmonary metastasectomy (PM) is frequently performed for patients with pulmonary metastatic nodules secondary to specific primary tumors. This study aimed to evaluate survival and its predictors among patients with primary sarcoma or colorectal cancer who underwent PM at the Princess Norah Oncology Center, Jeddah, between 2007 and 2016. PATIENTS AND METHODS: Sarcoma and colorectal cancer patients with isolated lung metastasis and who underwent PM in our institution between 2007 and 2016 were identified. Overall survival and possible survival predictors were assessed using log-rank test and multivariate analysis was implemented using Cox regression. RESULTS: Thirty-eight patients (16 with colorectal cancer and 22 with sarcoma) were identified. The median follow-up duration was 26 months (range 0-88). A total of 11 patients (28.9%) died during the follow-up period. The 5-year survival rates for patients who underwent PM with primary colorectal and sarcoma were 89% and 41%, respectively. Univariate analysis indicated that PM in patients with primary colorectal cancer was associated with longer overall survival (p value = 0.023) compared with PM with sarcoma. In the multivariate analysis, a metastatic lesion with size = 15 mm and having primary colorectal cancer were the factors significantly associated with prolonged survival. CONCLUSION: Our experience has shown a substantial 5-year survival benefit for patients with primary tumors of sarcomas and colorectal cancer who underwent a PM. A primary tumor of the colorectum and larger pulmonary metastases were associated with a better outcome. We recommend PM, following careful selection, for patients with pulmonary deposits secondary to a primary tumor of Colorectum or sarcoma.