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Diagnosis and Treatment > Signs and Symptoms

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Lourdes Balcázar-Hernández Endocrinology Department

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Guadalupe Vargas-Ortega Endocrinology Department

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Yelitza Valverde-García Anatomic Pathology Department, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Colonia Doctores, Mexico City, Mexico

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Victoria Mendoza-Zubieta Endocrinology Department

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Baldomero González-Virla Endocrinology Department

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Summary

The craniopharyngiomas are solid cystic suprasellar tumors that can present extension to adjacent structures, conditioning pituitary and hypothalamic dysfunction. Within hypothalamic neuroendocrine dysfunction, we can find obesity, behavioral changes, disturbed circadian rhythm and sleep irregularities, imbalances in the regulation of body temperature, thirst, heart rate and/or blood pressure and alterations in dietary intake (like anorexia). We present a rare case of anorexia–cachexia syndrome like a manifestation of neuroendocrine dysfunction in a patient with a papillary craniopharyngioma. Anorexia–cachexia syndrome is a complex metabolic process associated with underlying illness and characterized by loss of muscle with or without loss of fat mass and can occur in a number of diseases like cancer neoplasm, non-cancer neoplasm, chronic disease or immunodeficiency states like HIV/AIDS. The role of cytokines and anorexigenic and orexigenic peptides are important in the etiology. The anorexia–cachexia syndrome is a clinical entity rarely described in the literature and it leads to important function limitation, comorbidities and worsening prognosis.

Learning points:

  • Suprasellar lesions can result in pituitary and hypothalamic dysfunction.

  • The hypothalamic neuroendocrine dysfunction is commonly related with obesity, behavioral changes, disturbed circadian rhythm and sleep irregularities, but rarely with anorexia–cachexia.

  • Anorexia–cachexia syndrome is a metabolic process associated with loss of muscle, with or without loss of fat mass, in a patient with neoplasm, chronic disease or immunodeficiency states.

  • Anorexia–cachexia syndrome results in important function limitation, comorbidities that influence negatively on treatment, progressive clinical deterioration and bad prognosis that can lead the patient to death.

  • Anorexia–cachexia syndrome should be suspected in patients with emaciation and hypothalamic lesions.

Taxonomy:
Clinical Overview, Gland/Organ, Hypothalamus, Topic, Neuroendocrinology, Hormone, ACTH, Cortisol, FSH, GH, LH, Testosterone, Thyroxine (T4), TSH, Condition/ Syndrome, Craniopharyngioma, Diabetes insipidus - neurogenic/central, Hypopituitarism, Neuroendocrine tumour, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Hispanic or Latino - Mexican, Mexican American, Chicano, Country of Treatment, Mexico, Diagnosis and Treatment, Signs and Symptoms, Amnesia, Anhedonia, Anorexia, Appetite reduction/loss, Bradycardia, Cognitive problems, Dehydration, Diabetes insipidus, Diabetes mellitus type 2, Dyslipidaemia, Faecal incontinence, Fatigue, Hypercortisolaemia, Hypernatraemia, Hypertension, Hypoadrenalism, Hypoalbuminaemia, Hypogonadism, Hypopituitarism, Hyporeflexia, Hypotension, Hypothyroidism, Muscle atrophy, Myasthaenia, Myxoedema, Nausea, Polydipsia, Polyuria, Pyrexia, Urinary incontinence, Vomiting, Weight loss, Investigation, ACTH, Albumin, Cortisol, Creatinine, FSH, FT4, GH, Haemoglobin, Haemoglobin A1c, Histopathology, LH, MRI, Sodium, Testosterone, TSH, Intervention, Diet, Fluid repletion, Medication, Desmopressin, Glucocorticoids, Hydrocortisone, Levothyroxine, Prednisone, Testosterone enanthate esters, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-17-0018
Volume/Issue:
Volume 2017: Issue 1
Open access
A León-Suárez Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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P Roldán-Sarmiento Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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M A Gómez-Sámano Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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A Nava-De la Vega Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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V M Enríquez-Estrada Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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F J Gómez-Pérez Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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D Cuevas-Ramos Department of Endocrinology and Metabolism, Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico

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Summary

Non-Hodgkin lymphoma (NHL) is a hematological tumor caused by abnormal lymphoid proliferation. NHL can arise in any part of the body, including central nervous system (CNS). However, pituitary involvement is a quite rare presentation. The diffuse large B-cell lymphoma (DLBCL) is the most common subtype when pituitary is infiltrated. Here, we report a case of pituitary infiltration of NHL DLBCL type in a woman with hypopituitarism and an infundibulum-hypophysitis-like image on magnetic resonance imaging (MRI). A female aged 64 years, complained of dyspepsia, fatigue, weight loss and urine volume increment with thirst. Endoscopy and gastric biopsy confirmed diffuse large B-cell lymphoma. Treatment with chemotherapy using R-CHOP was initiated. During her hospitalization, hypotension and polyuria were confirmed. Hormonal evaluation was compatible with central diabetes insipidus and hypopituitarism. Simple T1 sequence of MRI showed thickening of the infundibular stalk with homogeneous enhancement. After lumbar puncture analysis, CNS infiltration was confirmed showing positive atypical lymphocytes. Pituitary and infundibular stalk size normalized after R-CHOP chemotherapy treatment. In conclusion, pituitary infiltration of NHL with infundibular-hypophysitis-like image on MRI is a rare finding. Clinical picture included hypopituitarism and central diabetes insipidus. Diagnosis should be suspected after biochemical analysis and MRI results. Treatment consists of chemotherapy against NHL and hormonal replacement for pituitary dysfunction.

Learning points:

  • Pituitary infiltration by lymphoma can present with signs and symptoms of panhypopituitarism and diabetes insipidus.

  • MRI findings can resemble an autoimmune hypophysitis.

  • Patients can recover pituitary function as well as normalization of MRI after chemotherapy treatment.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Cortisol, FSH, LH, Oestradiol (E2), Prolactin, Thyroxine (T4), Condition/ Syndrome, Adrenal insufficiency, Diabetes insipidus - neurogenic/central, Hypopituitarism, Hypothyroidism, Non-Hodgkin lymphoma, Panhypopituitarism, Pituitary tumour (malignant), Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Hispanic or Latino - Mexican, Mexican American, Chicano, Country of Treatment, Mexico, Diagnosis and Treatment, Signs and Symptoms, Dyspepsia, Fatigue, Hypoadrenalism, Hypogonadism, Hyponatraemia, Hypopituitarism, Hypotension, Hypothyroidism, Nausea, Polydipsia, Polyuria, Vomiting, Investigation, ACTH stimulation, Biopsy, Cortisol (serum), CT scan, Endoscopy, FSH, FT4, Gastric biopsy, Histopathology, LH, MRI, Oestradiol (E2), Prolactin, Sodium, Urine 24-hour volume, Urine osmolality, Intervention, Chemotherapy, Medication, Anthracyclines, Antibiotics, Desmopressin, Dexamethasone, Doxorubicin, Glucocorticoids, Hydrocortisone, Levothyroxine, Norepinephrine, Prednisolone, Rituximab, Related Disciplines, Oncology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-16-0103
Volume/Issue:
Volume 2016: Issue 1
Open access
Wann Jia Loh Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Kesavan Sittampalam Department of Pathology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Suan Cheng Tan Department of Radiology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Manju Chandran Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

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Summary

Erdheim–Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography–computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy.

Learning points

  • ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68+ CD1a− S100− histiocytes surrounded by fibrosis.

  • The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.

  • Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Bone, Pituitary, Thyroid, Topic, Adrenal, Hormone, FSH, IGF1, LH, Oestradiol (E2), Prolactin, Testosterone, Thyroxine (T4), TSH, Condition/ Syndrome, Empty sella syndrome, Hashimoto’s disease, Hypopituitarism, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Chinese, Country of Treatment, Singapore, Diagnosis and Treatment, Signs and Symptoms, Arthralgia, Atrial fibrillation, Crackles, Dyspnoea, Fatigue, Growth hormone deficiency, Gynaecomastia, Heart failure, Hepatomegaly, Hypoadrenalism, Hypogonadism, Libido reduction/loss, Osteosclerosis, Polydipsia, Polyuria, Investigation, Bone biopsy, CT scan, Echocardiogram, FSH, FT4, HDL cholesterol, Holter monitoring, IGF1, LDL cholesterol, LH, MRI, Oestradiol (E2), PET scan, Prolactin, Sex hormone binding globulin, Testosterone, Thyroid antibodies, TSH, Intervention, Cardiac pacemaker, Medication, Glucocorticoids, Interferon, Levothyroxine, Prednisolone, Testosterone, Thyroxine (T4), Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-14-0122
Volume/Issue:
Volume 2015: Issue 1
Open access