Age: 15.0
Sex: M
Vaccine: PPV
Symptoms: Antibody test negative
Clinical narrative: This is a literature marketed report received from the authors of a published article, concerning a 15 year old male patient who was born by vaginal delivery after a full-term uncomplicated gestation. He was noted to have an undescended testis. He received diagnoses of gastroesophageal reflux disease and failure to thrive at infancy, followed by type 1 diabetes mellitus (at 2 years of age), primary hypothyroidism (at 4 years of age), mild speech delay, learning disabilities, recurrent infections (including sinusitis, streptococcal pharyngitis and pneumonias), nocturia and leukoplakia of the tongue. At 2 years of age, he underwent genetic evaluation at another hospital, and the chromosomes were reportedly normal. When the patient was 10 years of age, magnetic resonance imaging (MRI) of the head was performed because of chronic headaches and nausea. The images showed numerous nonspecific, nonenhancing lesions (measure no more than 8 mm in diameter) in the bilateral periventricular and corona radiata white matter. Results of magnetic resonance angiography were normal. The complete blood count, erythrocyte sedimentation rate, levels of vitamin B12 and C-reactive protein, and antinuclear antibody titers were reportedly normal. A monospot test was negative, as was testing for Lyme disease and DNA for CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The patient was seen by neurologists at a second hospital; he reportedly had no seizure disorder. When the patient was 13 years of age, laboratory testing revealed normal blood levels of total protein and albumin. Between 13 years 6 months of age and 14 years 6 months of age, the patient's prothrombin-time international normalized ratio, lipid profile, and red-cell osmotic fragility were normal, as were blood levels of ceruloplasmin, iron, iron-binding capacity, IgG, and glucose-6-phosphate dehydrogenase (G6PD) and the 24-hour urinary copper level. A Coombs' test screening for celiac disease and Heinz bodies and tests for hepatitis B and C viruses, antinuclear antibodies, anti-liver-kidney microsomal antibodies, and F-actin smooth-muscle antibodies were negative. Hemoglobin electrophoresis revealed 97.3% hemoglobin A, and 2.3% hemoglobin A2. Ophthalmologic examination revealed no evidence of retinopathy. The patient was referred to the gastroenterology clinic of this hospital. The patient had a history of inguinal herniorrhaphies and had undergone orchidopexy at 15 months of age. He also had had orthopedic injuries related to sports traumas. Results of a sweat test (performed at 18 months of age), a bone-age study (at 20 months of age), and a tongue biopsy (at 12 years of age) were reportedly normal. Medications included insulin (by pump) and levothyroxine (manufacturer unknown). He had no known allergies to medications. He attended special-education classes in high school and lived with his parents and siblings. A maternal uncle had been born prematurely and had a history of learning disabilities, developmental delay, hypogammaglobulinemia (that required infusions of intravenous immune globulin), cryptogenic cirrhosis (that had been diagnosed when he was 30 years of age and was complicated by the hepatopulmonary syndrome), splenic-artery aneurysms, type 1 diabetes mellitus, and bone marrow failure; he died in his 40's. A maternal great-grandmother was reported to have scleroderma that had developed when she was in her 80s, his paternal grandmother had type 1 diabetes mellitus that had developed when she was in her teens, his mother had Graves' disease, his father had non-insulin-dependent diabetes mellitus, and his teenage siblings were healthy. On examination, the patient had slight facial dysmorphism. His height was in the 32nd percentile, and his weight in the 33rd percentile. There was a white plaque with shallow ulceration on the tongue. The abdomen was soft and nondistended, with a palpable spleen three fingerbreadths below the left costal margin and no hepatomegaly. Blood levels of lactate and pyruvate and sequence analysis of mitochondrial DNA polymerase gamma were normal. Abdominal ultrasonography performed to evaluate for splenomegaly, revealed heterogeneous echotexture in the liver, with multiple hypoechoic nodules (measuring no more than 1 cm in diameter) but no dominant mass. The spleen was enlarged (measuring 14.8 cm in greatest dimension). Doppler ultrasonography revealed normal hepatopetal flow of the portal and splenic veins and no evidence of splenic or gastroesophageal varices or ascites. MRI of the liver, performed with and without the administration of intravenous gadolinium, revealed splenomegaly and heterogeneous hepatic enhancement, without a focal mass, bile-duct dilatation, or varices. Ursodiol was administered. Two months after the patient initially presented to the gastroenterology clinic, array comparative genomic hybridization testing revealed no notable copy-number changes. Three months after the patient initially presented to the gastroenterology clinic, he was electively admitted to this hospital for further evaluation of liver abnormalities. On admission, flow cytometry of the peripheral blood revealed 945 CD3+ T cells per cubic millimeter, with normal absolute numbers of CD4+ and CD8+ T cells, CD19+ B cells, and natural killer cells. Additional diagnostic tests were performed. Other concurrent conditions included very mild nail dystrophy and subtle abnormal skin hyperpigmentation. On an unknown date, the patient received repeated vaccination with a dose of pneumococcal vaccine, polyvalent (23-valent) (manufacturer unknown) (strength, dose, route of administration, lot # and expiration date were not provided). On an unknown date, the patient experienced low pneumococcal antibody titers. Before the vaccination, the patient had positive Streptococcus pneumoniae IgG antibodies for 1 of 23 strains. After the vaccination, the patient had positive Streptococcus pneumoniae IgG antibodies for 4 of 23 strains (total antibodies test was negative). The outcome of the event was not reported. The authors considered the event to be related to pneumococcal vaccine, polyvalent (23-valent) (manufacturer unknown). Additional information has been requested.