Hashimoto's encephalopathy (HE) is a rare and underdiagnosed neuropsychiatric illness. We present the case of a 17-year-old girl who was admitted to a tertiary-care psychiatric center with acute onset psychosis and fever. Her psychotic symptoms were characterized by persecutory and referential delusions, as well as tactile and visual hallucinations. Her acute behavioral disturbance warranted admission and treatment in a psychiatric setting (risperidone tablets, 3 mg/day). She had experienced an episode of fever with a unilateral visual acuity defect approximately 3 years before admission, which was resolved with treatment. Focused clinical examination revealed an enlarged thyroid, and baseline blood investigations, including thyroid function test results were normal. Abnormal laboratory investigations revealed elevated anti-thyroid peroxidase (anti-TPO) and anti-thyroglobulin (anti-TG) levels (anti-TPO of 480 IU/mL; anti-TG of 287 IU/mL). Results of other investigations for infection, including cerebrospinal fluid examination, electroencephalography, and brain magnetic resonance imaging were normal. She was diagnosed with HE and was treated with intravenous corticosteroids (methylprednisolone up to 1 g/day; tapered and discontinued after a month). The patient achieved complete remission of psychotic symptoms and normalization of the anti-thyroid antibody titers. Currently, at the seventh month of follow-up, the patient is doing well. This case highlights the fact that in the absence of well-defined clinical diagnostic criteria, a high index of suspicion is required for early diagnosis of HE. Psychiatrists need to explore for organic etiologies when dealing with acute psychiatric symptoms in a younger age group.
Adolescent ; Adrenal Cortex Hormones ; Brain ; Brain Diseases ; Cerebrospinal Fluid ; Delusions ; Early Diagnosis ; Electroencephalography ; Female ; Fever ; Follow-Up Studies ; Hallucinations ; Humans ; Magnetic Resonance Imaging ; Methylprednisolone ; Peroxidase ; Psychiatry ; Psychotic Disorders ; Risperidone ; Tablets ; Thyroid Function Tests ; Thyroid Gland ; Visual Acuity

Polyglandular autoimmune syndrome (PAS) is a group of syndromes comprised of glandular and extra-glandular disorders characterized by autoimmunity. A 57-year-old woman presented with acute progressive dyspnea and generalized weakness for several months. The patient was assessed to have acute congestive heart failure with cardiomyopathy, chronic renal failure with hyporeninemic hypoaldosteronism, and pancytopenia in addition to primary hypothyroidism and adrenal insufficiency. With the diagnosis of PAS type 2 complicated by multiple organ failure (MOF), medium-dose prednisolone (30 mg/d) was introduced primarily to control the activity of autoimmunity, which triggered MOF over the adrenal insufficiency. Levothyroxine (25 microg/d) was followed for replacement of the thyroid hormone deficiency. However, the symptoms and signs fluctuated, depending on the dosage of prednisolone, and progressively worsened by empty sella syndrome and aplastic anemia. Here, we report on a case of PAS type 2 with MOF and atypical complications, and suggest that recognition, assessment, and control of PAS as a systemic autoimmune disease may be essential.
Adrenal Insufficiency ; Anemia, Aplastic* ; Autoimmune Diseases ; Autoimmunity ; Cardiomyopathies ; Diagnosis ; Dyspnea ; Empty Sella Syndrome* ; Female ; Heart Failure ; Humans ; Hypoaldosteronism ; Hypothyroidism ; Kidney Failure, Chronic ; Middle Aged ; Multiple Organ Failure* ; Pancytopenia ; Prednisolone ; Thyroid Gland ; Thyroxine

Adrenal Gland Diseases ; diagnosis ; Female ; Humans ; Middle Aged ; Retroperitoneal Space

We report a case of a 74-year-old female with myxoid adrenocortical adenoma which showed different magnetic resonance imaging findings compared to those of a typical adrenocortical adenoma. The myxoid change in the adrenocortical adenoma is a rare form of degeneration. It presents a considerable diagnostic challenge to both radiologists and clinicians because it can mimic other adrenal tumor types on imaging. The MRI findings of the presented case included a high signal intensity on T2-weighted images similar to that of fluid and delayed progressive enhancement.
Adenoma/*diagnosis/pathology ; Adrenal Gland Neoplasms/*diagnosis/pathology ; Adrenocortical Adenoma/*diagnosis/pathology ; Aged ; Diagnosis, Differential ; Female ; Humans ; Magnetic Resonance Imaging ; Rare Diseases/*diagnosis/pathology

Pheochromocytoma is a rare neuroendocrine tumor that is usually derived from adrenal medulla or chromaffin cells along with sympathetic ganglia. In Western countries, the prevalence of pheochromocytoma is estimated to be between 1:6,500 and 1:2,500, compared with an incidence in the United States of 500 to 1,100 cases per year. Despite this low incidence, pheochromocytoma should always be considered for differential diagnoses because previous studies have shown that this condition can be cured in approximately 90% of cases. However, an untreated tumor is likely to be fatal due to catecholamine-induced malignant hypertension, heart failure, myocardial infarction, stroke, ventricular arrhythmias or metastatic disease. Symptoms that result primarily from excess circulating catecholamines and hypertension include severe headaches, generalized inappropriate sweating and palpitations (with tachycardia or occasionally bradycardia). Pheochromocytoma, however, has highly variable and heterogeneous clinical manifestations, including fever, general weakness and dyspepsia, and can be observed in patients who are suffering from infectious diseases. Several of such case reports have been presented, but most of these included infectious patients with high blood pressure and severe fluctuations. In this study, we presented the case of a 53-year-old male who showed normal blood pressure, but had a sustained fever. He was diagnosed with diabetic ketoacidosis, infective endocarditis and asymptomatic adrenal incidentaloma. Despite treatment with antibiotics and valve replacement, the fever persisted. After the patient underwent evaluation for the fever, adrenal incidentaloma was identified as pheochromocytoma. After removal of the abdominal mass, his fever improved.
Adrenal Gland Neoplasms ; Adrenal Medulla ; Anti-Bacterial Agents ; Arrhythmias, Cardiac ; Blood Pressure ; Catecholamines ; Chromaffin Cells ; Communicable Diseases ; Diabetic Ketoacidosis ; Diagnosis, Differential ; Dyspepsia ; Endocarditis ; Fever ; Ganglia, Sympathetic ; Headache ; Heart Failure ; Humans ; Hypertension ; Hypertension, Malignant ; Incidence ; Male ; Middle Aged ; Myocardial Infarction ; Neuroendocrine Tumors ; Pheochromocytoma ; Prevalence ; Stress, Psychological ; Stroke ; Sweat ; Sweating ; Tachycardia ; United States

OBJECTIVETo explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.

METHODLysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed.

RESULTThe sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation.

CONCLUSIONThe clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.

Adrenal Gland Diseases ; etiology ; pathology ; Exons ; Humans ; Infant, Newborn ; Leukocytes ; enzymology ; Lipase ; blood ; genetics ; Liver ; pathology ; Lysosomes ; enzymology ; genetics ; Male ; Mutation ; Polymerase Chain Reaction ; Splenomegaly ; pathology ; Sterol Esterase ; genetics ; Tomography, X-Ray Computed ; Wolman Disease ; diagnosis ; enzymology ; genetics ; pathology

OBJECTIVE: To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. MATERIALS AND METHODS: We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. RESULTS: All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. CONCLUSION: Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas.
Adrenal Gland Diseases/*diagnosis ; Adrenal Gland Neoplasms/*congenital/*diagnosis ; Catha ; Cysts/*diagnosis ; Diagnosis, Differential ; Female ; Hemorrhage/*diagnosis ; Humans ; Infant ; Infant, Newborn ; Male ; Neuroblastoma/*congenital/*diagnosis ; Tomography, X-Ray Computed ; Ultrasonography

Adrenal Gland Diseases ; etiology ; surgery ; Aged ; Bacteremia ; microbiology ; Fatal Outcome ; Hemorrhage ; etiology ; pathology ; surgery ; Humans ; Lung Neoplasms ; complications ; diagnosis ; pathology ; Male ; Methicillin-Resistant Staphylococcus aureus ; Retroperitoneal Space ; Risk Factors

Adrenal Gland Diseases ; diagnosis ; pathology ; therapy ; Female ; Hemorrhage ; diagnosis ; pathology ; therapy ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Prognosis ; Tomography, X-Ray Computed

PURPOSE: We present a single surgeon experience of 52 cases of transperitoneal laparoscopic adrenalectomy for various adrenal diseases. MATERIALS AND METHODS: Transperitoneal laparoscopic adrenalectomy (n= 52) for various adrenal diseases was performed by a single surgeon from February 1998 to December 2004. Clinical diagnosis of the subjects included 17 cases of primary aldosteronism, 11 of adrenal adenoma causing Cushing's syndrome, 3 of pheochromocytoma and 21 of nonfunctioning adenoma. The 52 patients were divided into 3 groups according to the time when operations were performed: early group of 18 patients, intermediate group of 17 patients, and late group of 17 patients. The mean operative time, mean estimated blood loss (EBL) and complication of each group were investigated to analyze the single surgeon's learning curve. RESULTS: All laparoscopic adrenalectomies were successfully completed in all 52 patients. The mean operative time, mean EBL, mean tumor size, and mean postoperative hospital stay were 124 minutes (60-360), 56cc (30-300), 2.7cm (1-4.7), and 3.8 days (3-8), respectively. The mean time to solid diet and ambulation were 1.5 days and 1 day, respectively. There was no serious intraoperative or postoperative complication. Statistically, the mean operative time and estimated blood loss showed a significant reduction in the intermediate and late group compared with the early group. CONCLUSIONS: Our results showed that transperitoneal laparoscopic adrenalectomy is a safe and effective surgical treatment modality in adrenal diseases.
Adenoma ; Adrenal Gland Diseases ; Adrenalectomy* ; Cushing Syndrome ; Diagnosis ; Diet ; Humans ; Hyperaldosteronism ; Laparoscopy ; Learning Curve ; Length of Stay ; Operative Time ; Pheochromocytoma ; Postoperative Complications ; Walking