(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 64 year old male Chinese patient presented with generalized tonic-clonic seizures for a month prior to admission. He had a past history of diabetes, hypertension and previous cerebrovascular accident. Otherwise, he had no other constitutional symptoms such as fever, chills, weight loss etc. Physical examination did not disclose any systemic lymphadenopathy. Subsequent MRI revealed right frontal extra-axial mass with features suggestive of a meningioma which was associated with compression of the anterior portion of the superior sagittal sinus (Fig. 1a). He underwent a craniotomy and tumor excision. During surgery, an avascular right frontal enplaque tumor associated with poor brain-tumor interface was noted. A biopsy of the mass was submitted for frozen section intra-operative consultation during which smears as well as frozen tissue sections were prepared. Following the frozen section result, a subtotal resection was undertaken with residual tumor remaining in the patient.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

This 42-year-old Caucasian woman was referred for diagnosis and therapy of an ampullary adenoma. The patient had been in good health until 3 months earlier, when she developed episodic right upper quadrant (RUQ) and back pain. On gallbladder ultrasound, there was evidence of calcified gallstones with normal gallbladder wall and bile duct. Laboratory tests revealed a mild elevation in alanine amino-transferase (ALT) (48 U/liter). The CBC, chemistry profile, aspartate aminotransferase (AST), alkaline phosphatase, total bilirubin, lipase, and the urine analysis were normal. Family history includes: mother deceased of breast cancer at age 64, father deceased at age 72 of coronary artery disease. and one sister who died at age 37 of renal cancer (she is one of four children). She has a 14 and a 21-year-old child.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A man in his mid 40s underwent esophagogastroduodenoscopy (EGD) after several months of vague abdominal pain. Random biopsies of his gastric mucosa were taken. A representative field of the antral gastric biopsy (H&E stain, high magnification) is shown in the image below (Figure 1).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a nine month old Caucasian boy who, as a newborn, failed to pass meconium prior to his 48 hour discharge from the hospital. He was the product of an uncomplicated, term pregnancy. He went on to develop chronic constipation and was clinically diagnosed with Hirschsprung disease. Biopsies were performed and the clinical diagnosis of Hirschsprung disease was pathologically confirmed by intestinal aganlionosis involving only the rectosigmoid colon (i.e. short-segment disease). The patient had no other congenital anomalies and there was no family history of Hirschsprung disease so he was therefore classified as a case of isolated Hirschsprung disease.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A toddler girl with type I diabetes mellitus presents with intermittent abdominal pain, lasting for approximately one week, localizing to the left upper and lower quadrant and the left flank. The pain was worse at night and associated with anorexia and nausea, relieved by vomiting with non-bloody, non-bilious emesis. Bowel function was otherwise normal. Family history, social history and birth / developmental history are non-contributory. Physical exam demonstrated a tender, palpable mass in the left side of the abdomen. Abdominal ultrasound and CT of the abdomen and pelvis shows an enhancing, heterogenous, solid vascular mass of approximately 6 cm in greatest dimension arising from the lower pole of the left kidney with a perinephric hemorrhage and hematoma contained within Gerota's fascia.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

Myelodysplastic syndrome (MDS) is a clonal disorder of bone marrow stem cells characterized by ineffective hematopoiesis and cytopenias. MDS most commonly arises in older individuals, with a median age at diagnosis of 65-70 years and an annual incidence of 3.1 per 100,000 [1, 2]. Progression to acute myeloid leukemia (AML) is a dangerous complication of MDS, occurring in about one third of cases [1, 3]. Cytogenetic abnormalities are important diagnostic and prognostic factors in MDS, and are more likely to involve unbalanced chromosomal changes in MDS than in AML [4]. Frequently observed abnormalities include 5q deletion, monosomy 7, and trisomy 8 [4]. Pediatric MDS is considerably less common than MDS in adults, with an estimated annual incidence of 1.8 cases per 1 million children aged 0-14 years [5]. Allogeneic hematopoietic stem cell transplant (HSCT) is the primary treatment for both MDS and AML in children [5].

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

This patient is a 7-month old baby boy who underwent kidney transplantation due to congenital steroid-resistant nephrotic syndrome with progressive renal failure. Additional clinical history included bilateral inguinal exploration followed by right orchidopexy due to cryptorchidism; the left testis had not been found on surgical exploration. Physical examination disclosed a well-developed baby boy with normal male genitalia and a non-palpable left testis.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

This 63-year-old woman presented with a history of continuously aggravating lower back pain, sometimes radiating down the back of her thighs, of approximately 4 months duration. In the weeks preceding the initial clinical evaluation, she experienced urinary urge incontinence. There were no pareses or sensory disturbances. The other aspects of the clinical history were completely unremarkable.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A male in his early twenties was found to have elevated Gamma Glutamyl Transferase (GGT) incidentally during his work up for medical clearance for the US armed forces. Patient's past medical history is significant for Acute Lymphoblastic Leukemia (ALL) when he was in preschool. Patient received chemotherapy followed by bone marrow transplant. He completed his chemotherapy treatment three years later. Follow up showed no recurrence. Patient's social history includes social alcohol use of 4-5 beers every weekend. Patient denies smoking and/or use of recreational drugs. In addition to exercising daily, patient takes a number of unknown health supplements. Of note, patient recalls having an elevated GGT level when he was in the 5th grade, 3 years after he completed chemotherapy during a wellness check however the cause was unknown. Physical exam is non-contributory. BMI is 25. The results of the initial laboratory tests are listed in Table 1.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 60 year old female presents with jaundice and abdominal pain. Computed Tomography (CT) reveals a 4.0 cm pancreatic head mass that extends into the pancreatic body. Brushings from an Endoscopic Retrograde Choleangiopancreatography (ERCP) reveal atypical cells suspicious for malignancy. A classic pancreaticoduodenectomy was performed and pathological examination of the pancreas reveals a densely fibrotic parenchyma with moderate lymphoplasmacytic infiltrate, ductitis, neurotrophic chronic inflammation, obliterative phlebitis and atrophic acini. Immunohistochemical staining for IgG4 reveals an increased number of IgG4 plasma cells within the pancreatic parenchyma and adjacent lymphoid tissue (Figures 1 - 7). No pancreatic carcinoma is identified.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 20-30 year old female, gravida 2, para 1 who presented for follow up of an established pregnancy. The patient denied any symptoms, and has no history of prior blood transfusion or other significant medical history. She has one healthy child from the same marriage. The husband is healthy. Upon current pregnancy workups, including routine blood type and screen, the mother's blood group was found to be AB Rh positive with a positive antibody screen. Anti-Jka antibodies were identified with antihuman globulin (AHG) phase titers of 1:8. The mother was phenotyped and she is Jka negative. The father of the baby (FOB) was phenotyped and he is homozygous for Jka (Jka+Jkb-). The predicted phenotype of the baby is Jka+Jkb+.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient was a 31-year-old African-American female admitted for evaluation and treatment of leg weakness. Neurological examination revealed markedly decreased strength in bilateral hip flexion (right: grade 1/5, left: 2/5) and left knee flexion (grade 3/5) as well as extension (grade 2/5), hyperesthesia in the bilateral ankles and feet, and decreased sensation to light touch on the left leg. Her past medical history was significant for end-stage liver disease secondary to autoimmune hepatitis, status post orthotopic liver transplant in December 2004, fungal meningitis in 2003, and diabetes mellitus (type 2). Approximately one month after liver transplantation, the patient underwent placement of a ventriculoperitoneal (VP) shunt for a diagnosis of acute communicating hydrocephalus.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a 72-year-old female with a history of cirrhosis secondary to alcohol abuse and hepatitis C. She presented with hepatic encephalopathy and refractory ascites. The patient also has a history of diabetes mellitus, hypothyroidism. Radiology showed a cirrhotic liver morphology with hypervascular mass 2.6 x 2.2cm within the caudate lobe worrisome for a hepatocellular carcinoma.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient started early intervention shortly after the onset of symptoms, but therapies were limited due to his oppositional behaviors. After evaluation by a developmental pediatrician, he did not meet diagnostic criteria for autism spectrum disorder. The physical exam was unremarkable, an audiology test was normal, and a brain MRI showed no evidence of focal parenchymal abnormality. Given the patient's medical history, global developmental delays, behavioral issues, as well as a family history of a maternal uncle with brain malformation and similar behavioral issues further genetic testing was undertaken. SNP micro-array analysis was negative for copy number alterations. FMR1 gene mutation analysis by PCR for Fragile X Mental Retardation is shown in Figure 1.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

Table 1 - Selected laboratory data prior to surgery.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient was a 75 year old female with a history of urothelial carcinoma treated initially by transurethral resection with intravesicular BCG and interferon-alpha. Her disease later progressed and she developed invasive tumor requiring radical cystectomy, hysterectomy, and renal resection, as well as adjunct chemoradiation. One year later she presented with left ankle pain and swelling. Plain radiograph of the ankle showed a lytic lesion in the proximal portion of the calcaneus (Figure 1). Magnetic resonance imaging demonstrated boney destruction (Figure 2).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

Middle age female with an incidental left hip lesion.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

This is a female in her late 40s with a history of uveal melanoma in her left eye status post plaque radiation, four years ago. She now presents with multiple subcutaneous lesions, as well as lung and liver lesions. A subcutaneous lesion on the back was biopsied.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

Patient was a man in his 60s who developed myelodysplastic syndrome after chemotherapy (MOP) and autologous bone marrow transplant for Hodgkins disease. The patient therefore needed an allogeneic bone marrow transplant as part of the next phase of his treatment.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A pregnant female patient in her early 30s was admitted to hospital with a history of 32 weeks gestation. There were signs of severe fetal suffering and an unusually large fetal skull was detected in ultrasound examination. A cesarean section was performed and a baby girl was delivered with cyanosis, vomiting and irritability. After basic neonatal procedures, neurosurgical evaluation revealed a large skull with congested and prominent superficial vasculature, prominent eyes, and a bulging anterior fontanel with wide open sutures. CT scan showed a large partially cystic mass that occupied approximately half of the intracranial space. Marked hydrocephalus was also noted. A neurosurgical procedure was performed and several fragments of the tumor were submitted for neuropathological examination. The baby expired at age 2 months and an autopsy examination was not performed.