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PubMed1986

Ruptured intracranial aneurysms as a cause of subdural haematoma. Potential diagnostic pitfalls and the surgical management of the acute patient.

Seven cases of aneurysms that ruptured into the subdural space and were treated surgically are reviewed. Six out of the seven presented with signs of uncal herniation, three of them for at least for four hours or more. They all died in spite of urgent decompression and drainage. Three others suffered from uncal herniation for less than four hours and they all did well. The seventh patient had a small subdural haematoma with no signs of compression of the underlying neural structures. This last patient also had a good outcome. The authors point out that the aneurysm causing the haematoma might be overlooked should one utilize CT (computerized tomography) scan alone without contrast. However, in most instances the history gives the aneurysm diagnosis despite the CT scan of haematoma only. Intravenous contrast CT scan may occasionally demonstrate the aneurysm, provided modern CT equipment is adequately utilised. Severe neurological deficit and uncal herniation might still be reversible provided decompression can be carried out in less than four hours. If accessible the aneurysm should also be clipped at the same time.

Adult↗
PubMed1995

Liver tumors in neonates and very young infants: diagnostic pitfalls and therapeutic problems.

We report on 26 infants under 3 months of age with various liver tumors, who were treated in our hospital since 1977 and/or registered in the German Cooperative Pediatric Liver Tumor Study HB-89. 17 of these had an infantile hemangioendothelioma (inf HE), 7 a hepatoblastoma (HB), one a mesenchymal hamartoma (mes H) and one a neuroblastoma stage IV-S (Nbl). Polyhydramnios occurred in 5 cases of inf HE, in one associated with hydrops fetalis. This led to a preterm delivery of 4 infants. 7 infants with a large inf HE suffered from high output congestive heart insufficiency, 2 additionally from a Kasabach-Merritt-syndrome. Serum alpha-fetoprotein was within normal range of age in all infants except in one HB patient. Neuron-specific enolase was clearly elevated in the Nbl patient and slightly above normal range in one inf HE and 3 HB patients. Other tumor markers and platelet counts were not indicative of diagnosis. Also imaging techniques as ultrasonography, CT and angiography were not always reliable in differentiating the tumors. In 2 cases the initial histological diagnosis of an HB had to be corrected for an inf HE. In 6 children the tumors were initially treated under a wrong assumption: 4 tumors as an HB instead of an inf HE, one as an inf HE instead of a Nbl IV-S and one as a focal nodular hyperplasia of the liver instead of an HB. 7 not resected inf HEs (Dehner type I) showed spontaneous regression after 6 months to 3 years. One inf HE type II relapsed twice after resection.(ABSTRACT TRUNCATED AT 250 WORDS)

Biomarkers, Tumor↗
PubMed2002

Transverse fracture-dislocation of the sacrum: a diagnostic pitfall and a surgical challenge.

Transverse fracture-dislocations of the sacrum are rare. Associated lesions of the lumbosacral spine as well as neurological injuries are common. Conventional radiographs of the pelvis often fail to clearly visualize the fracture. Delayed diagnosis increases the risk of progressive neurological disfunction. True lateral sacral views and CT-scans with 3-dimensional reconstructions are very helpful in establishing the full extent of the injury. These examinations should be considered in all patients with a history of high energy trauma and clinical signs indicating lumbosacral injury, such as severe low back pain and neurological disturbances of the lower extremities. The management of transverse sacral fracture-dislocations with or without associated neurological damage is controversial. Conservative treatment is associated with a high rate of persistent deformity and residual neurological dysfunction. Surgical management allows for anatomical fracture reduction, stable fixation and revision of the spinal canal and lumbosacral nerve roots. The dorsal approach is preferred. Two patients with transverse sacral fracture-dislocations and neurological disturbances are presented. One patient had an additional fracture-dislocation of the lumbar spine at the L4L5 level with intrusion of the lumbosacral spine into the pelvis. Both lesions in this patient were successfully stabilized using an internal fixator system. The other patient presented with a bilateral transforaminal sacral fracture. The transverse component was not recognized on the initial radiographs, which resulted in loss of reduction and progressive neurological disfunction after sacroiliac screw fixation.

Adult↗
PubMed1989

Dysphagia. Diagnostic pitfalls and how to avoid them.

Oropharyngeal and esophageal dysphagia involve different phases of swallowing, have different causes, and can usually be distinguished by a thorough patient history. Initial evaluation of patients with suspected oropharyngeal dysphagia includes patient history, physical and neurologic examination, and careful videofluoroscopic study of pharyngeal dynamics. Initial evaluation of patients with suspected esophageal dysphagia includes patient history and barium swallow with esophagography. Lesions such as Schatzki's ring or peptic stricture may not be detected unless the esophagus is sufficiently distended and the patient is given a bolus challenge.

Deglutition↗
PubMed2003

Spindle-cell tumours of the larynx: diagnostic pitfalls. A case report and review of the literature.

Malignant laryngeal tumours with spindle-cell morphology are relatively rare. Differential diagnosis of spindle-cell carcinoma, leiomyosarcoma, fibrosarcoma, rhabdomyosarcoma, malignant melanoma and inflammatory myofibroblastic tumour may be particularly difficult. Ambiguous and indeterminate diagnoses are also possible after immunohistochemical investigations of the expression of specific tumour markers but electron microscopic observations help to clarify most of these diagnoses.

Aged↗
PubMed2005

Compound heterozygosity for Hb E and Hb Lepore-Hollandia in India; first report and potential diagnostic pitfalls.

A compound heterozygous state of Hb E [beta26(B8)Glu-->Lys] with Hb Lepore is rare with very few cases reported in the literature. This report describes the first such case from India. The clinical features and hemoglobin (Hb) analysis mimic Hb E-beta-thalassemia (thal) but with a mild phenotype. Detection was made possible in this case because DNA analysis gave discrepant results suggestive of homozygous Hb E. As this was inconsistent with the clinical phenotype and Hb analysis, further evaluation was undertaken that confirmed the presence of Hb Lepore. This study shows that cases of Hb E/Lepore may remain undetected unless family studies and/or detailed DNA analyses in patients diagnosed to have Hb E-beta-thal are performed.

Adolescent↗
PubMed1987

Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall.

Early difficulties with the interpretation of the histopathology caused overdiagnosis of cancer in the Peutz-Jeghers syndrome; and there is still controversy about the magnitude of risk of gastrointestinal carcinoma. Most workers now believe that there is a small but definite increase in the incidence of gastrointestinal carcinoma in Peutz-Jeghers polyps and most of these cancers occur in the upper gastrointestinal tract. In a review of 491 Peutz-Jeghers polyps in the records of St. Mark's Hospital Pathology department, misplacement of epithelium was found in approximately 10% of small intestinal polyps and closely mimicked adenocarcinoma. This "pseudoinvasion" was not observed in polyps of the stomach or colon. The epithelial misplacement may involve all layers of the bowel wall; and the most helpful histological discriminators include a lack of cytological atypia, the presence of the normal epithelial cell subtypes and a brush border, hemosiderin deposition, and intramural mucinous cysts. Epithelial misplacement may account for the overdiagnosis of carcinoma arising in Peutz-Jeghers polyps as reported in the literature.

Adenoma↗
PubMed1994

Glycogen-rich clear cell rhabdomyosarcoma of the mediastinum. Potential diagnostic pitfall.

A 63-year-old black man of Caribbean origin, seropositive for human T-cell lymphoma virus type I (HTLV-I), presented with a 4-week history of progressive dyspnea, and was found to have a tumor of the anterior mediastinum. Incisional biopsy revealed a malignant neoplasm with a solid pattern of glycogen-rich clear cells. Diffuse expression of vimentin was observed, whereas only rare cells were immunoreactive for muscle-specific actin and desmin. Ultrastructure revealed a large amount of mono-particulate glycogen in most cells and features of rhabdomyogenic differentiation in occasional cells. The autopsy revealed a 23 x 14-cm (1,345 g), soft and white mediastinal neoplasm bulging in the right thorax with right pleural metastases. HTLV-1 proviral genome was not detected within tumor cells by polymerase chain reaction. This rhabdomyosarcoma is best classified as the solid subtype of the alveolar variant, with an unusually large amount of cytoplasmic glycogen. Clear cell rhabdomyosarcoma could be potentially confused with more commonly encountered clear cell tumors, particularly in the mediastinum.

Cytoplasm↗
PubMed1994

Squamous cell carcinoma in situ involving mesonephric remnants. A potential diagnostic pitfall.

A case of uterine cervical squamous cell carcinoma in situ (CIS) in which there was extensive endocervical glandular involvement was found to have, in addition, a deep-seated squamous epithelial lesion within the cervical stroma. Because of the deep location of this lesion, which was composed of nests of pleomorphic squamous epithelial cells, found at a site not usually occupied by endocervical glands, it was initially thought to be an invasive squamous cell carcinoma (SCC). However, on review it was found that there was CIS in the deep cervical stroma that appeared to involve small tubular structures and dilated ducts that were lined by mucin-free cuboidal epithelial cells. There was no stromal reaction to this lesion. Tubules had a poorly defined lobular arrangement and had intraluminal bright eosinophilic hyaline material. Tubular epithelial cells demonstrated immunohistochemical staining for low-molecular-weight keratin (LMWK) and vimentin but showed no staining for carcinoembryonic antigen (CEA) and high-molecular-weight keratin (HMWK). It was apparent that these tubular structures and ducts were mesonephric remnants and that this lesion represented involvement of mesonephric remnants by CIS. Although involvement of endocervical glands by CIS is well recognized, a similar lesion involving mesonephric remnants has not been previously described. Familiarity with the histological features of these lesions is essential to avoid a misdiagnosis and potential mismanagement.

Carcinoma in Situ↗
PubMed1998

Partial atrophy in prostate needle cores: another diagnostic pitfall for the surgical pathologist.

We have seen in consultation a variant of atrophy, which is frequently confused with well-differentiated adenocarcinoma of the prostate. We have designated this entity as partial atrophy to distinguish it from its more common counterpart of fully developed atrophy. Partial atrophy is defined as benign prostate glands with relatively scant cytoplasm, yet the glands are not fully atrophic in that they do not appear basophilic at low magnification. Fifty-one cases of partial atrophy were identified (4 from Johns Hopkins Hospital, 47 from consultation). Within the partial atrophy focus, irregular (crinkled) nuclei were frequent in 23.5% and occasionally present in 33.3% of cases. Visible nucleoli were frequent in 25.4% of cases. Basal cells were not identifiable in 27.4% of cases or were hard to identify in 35.3% of cases. No intraluminal crystalloids or blue-tinged mucinous secretion was identified in partial atrophy. Adenocarcinoma or glands suspicious for cancer were present in other cores in 15.6% of cases. More fully developed atrophy was present in simultaneously obtained needle cores in 35.3% of cases. In the cases in which regular atrophy was the only coexisting condition, it was present within one 10x field from the partial atrophy in 22.2%, farther than one 10x field from the partial atrophy in 11.1%, and present in the same gland as the partial atrophy in 66.7%. Partial atrophy may be confused with low-grade adenocarcinoma because of the focus of crowded glands, irregular nuclei, and visible nucleoli. Clues for recognizing partial atrophy include relatively scant cytoplasm, distinct crinkled nuclei, pale cytoplasm similar to adjacent, more recognizably benign glands, and association with more fully developed benign atrophy.

Adenocarcinoma↗
PubMed2000

Misplacement of dysplastic epithelium in Peutz-Jeghers Polyps: the ultimate diagnostic pitfall?

Peutz-Jeghers syndrome is characterized by multiple polyps throughout the gastrointestinal tract in association with mucocutaneous pigmentation. Small bowel polyps in the syndrome may exhibit epithelial misplacement, into the submucosa, the muscularis propria, and even the subserosa. The authors demonstrate two patients in whom there is also misplacement of dysplastic epithelium into the submucosa and muscularis propria of the small bowel. Epithelial misplacement is recognized to mimic invasive malignancy. Such mimicry is heightened substantially when the misplaced epithelium is dysplastic. Correct interpretation of the histologic changes is aided by the use of special stains, which demonstrate the associated lamina propria and the lack of a desmoplastic response, and immunohistochemistry, which shows that the misplaced dysplastic epithelium is accompanied by non-neoplastic mucosa. There is an increased prevalence of gastrointestinal malignancy in Peutz-Jeghers syndrome. However, the presence of perplexing histologic features, caused by epithelial misplacement, especially when some of that epithelium is dysplastic, in small bowel polyps at least has the potential for the overdiagnosis of malignancy in the syndrome.

Adult↗