Sonographic measurements for spleen size in healthy Saudi children and correlation with body parameters.

BACKGROUND: Ultrasound is commonly the first-line imaging modality for assessing the visceral organ dimensions without any risk of radiation. An abnormal size of the spleen may indicate disease, but the evaluation is challenging because of the normal size changes with age. In addition, published normal value charts for children may vary by population and methods. OBJECTIVES: Determine normal growth curves for splenic length in relationship to sex, age, body weight, height, body mass index, and body surface area of healthy children in Saudi Arabia. DESIGN: A retrospective review of ultrasonography images SETTING: Tertiary referral hospital SUBJECTS AND METHODS: We included all normal ultrasonography exams of splenic length (from full-term neonates to 16 years of age) performed between 2003 and 2018. The greatest longitudinal distance of the spleen from the dome to the tip (splenic length) measured at the hilum in the coronal plane was obtained by ultrasonography. MAIN OUTCOME MEASURES: The relationship between the longitudinal length of the spleen and sex, age, height, weight, body mass index, and body surface area. SAMPLE SIZE: 1028 healthy children RESULTS: Height had the most significant correlation with the length of the spleen (P<.001). There was a consistent difference in splenic length according to sex. The spleen was longer in males than in females in children older than 2 years. In terms of splenic growth according to age, our data showed a statistically significant correlation between the ages of 0-24 months and 2-16 years. There was a significant difference between cases from Saudi Arabia, the United States (P=.023) and India (P=.045). CONCLUSION: We developed scatter plots between splenic lengths and body parameters among Saudi children for children from 0 day to 24 months and children from 2 years to 16 years for reference. LIMITATION: Retrospective study. Ultrasound techniques in patient positioning, and cursor placement differed from other studies, which can affect measurements of splenic length. CONFLICTS OF INTEREST: None.

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases. PNP deficiency is a variable disease with recurrent infections and neurodevelopmental delay. Autoimmunity and malignancy can still occur in one-third of patients. METHODS: Case report. CASE PRESENTATION: An 8-year-old Saudi female who was apparently healthy presented at the age of 7 years with confirmed systemic lupus erythematosus (SLE) and lupus nephritis that were poorly controlled with conventional therapy. She also had frequent sinopulmonary and varicella infections. Preliminary immunological workup showed severe lymphopenia and depressed lymphocyte proliferation assay. The uric acid was within normal levels at 179 µmol/L (normal range, 150 to 350 µmol/L) 6 weeks after blood transfusion. Genetic study revealed a homozygous missense mutation c.265G>A in the PNP gene, resulting in a substitution of glutamic acid to lysine at amino acid 89 of the encoded protein (E89K). The PNP serum level was 798 nmol/h/mg (normal level 1354 ± 561 nmol/h/mg) 6 weeks after blood transfusion. Hematopoietic stem cell transplantation (HSCT) was planned from a matched unrelated donor; however, she developed an EBV and varicella meningoencephalitis. Atypical malignant cells suggestive of lymphoma were discovered, likely induced by EBV, and suspicious lesions were shown on brain MRI and PET scan. Unfortunately, she passed away before HSCT due to multiorgan failure. CONCLUSION: This report emphasizes the challenges in recognizing PNP deficiency in a patient suffering from SLE.

Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.

BACKGROUND: We describe radiographic changes in the ribs and scapulae seen in the first 6 months of life in children with ADA (adenosine deaminase) deficiency severe combined immundeficiency syndrome (SCIDS). We suggest that these changes are reversible with appropriate enzyme replacement therapy. OBJECTIVE: The purpose of this study was to describe characteristic rib and scapular radiographic changes in infants with ADA-deficiency SCIDS. MATERIALS AND METHODS: This was a retrospective review of chest radiographs of nine children with ADA-deficiency SCIDS performed in the first year of life by two experienced pediatric radiologists. A control cohort of unaffected children was used for comparison. RESULTS: All children with ADA-deficiency SCIDS manifested unusual scapular spurring and anterior rib cupping. None of the control children manifested these changes. CONCLUSION: Characteristic and reversible scapular and rib changes in the correct clinical setting should suggest an early diagnosis of ADA deficiency, prompting appropriate diagnostic and therapeutic measures.