1/47. Two patients with Kabuki syndrome presenting with endocrine problems.A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/47. Polyglandular endocrine failure in a patient with amyloidosis secondary to familial mediterranean fever.familial mediterranean fever (FMF) is 1 of the major causes of secondary amyloidosis. Renal involvement is the main clinical complication and it mostly presents with nephrotic syndrome and chronic renal failure. Although deposition of amyloid has been reported in several endocrine glands such as the adrenal, thyroid, and testes, clinically significant functional impairment is uncommon. Herein, we describe a patient in whom the diagnosis of FMF was based on molecular screening and who presented with recurrent hypoglycemic attacks and extensive amyloid deposition affecting various organ function including adrenal, thyroid, parathyroid, testes, intestinal system, and the heart.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/47. Left ventricular mass in a patient with Carney's complex.IMPLICATIONS: Carney's complex is characterized by cardiac myxomas, adrenocortical disease, growth hormone-secreting adenomas, and other types of tumors. Its prevalence and incidence are unknown. The anesthesiologist must examine the patient or order tests to exclude cardiac tumors, signs of excess cortisol secretion, acromegaly, and possible peripheral nerve root involvement.- - - - - - - - - - ranking = 0.39050527737408keywords = nerve (Clic here for more details about this article) |
4/47. Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up.Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
5/47. optic nerve hypoplasia in cholestatic infants: a multiple case study.PURPOSE: To present four infants with optic nerve hypoplasia and cholestasis. methods: All patients underwent detailed ophthalmological and hepatological assessment. Their endocrinological and neuroradiological examinations were re-evaluated. RESULTS: All four infants presented with cholestasis and were subsequently found to have optic nerve hypoplasia. One child was blind according to the WHO definition and two had low vision. The fourth child had unilateral optic nerve hypoplasia and was too young to be assessed with optotypes. All four children had central nervous system and/or endocrine dysfunction. However, only one child had septo-optic dysplasia. The longterm outcome of liver disease seemed favourable in all children. CONCLUSION: Early assessment by a paediatric ophthalmologist as well as a multidisciplinary approach is of great importance in cholestatic infants.- - - - - - - - - - ranking = 2.7335369416186keywords = nerve (Clic here for more details about this article) |
6/47. Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: a new syndrome?We report on a 17-year-old male with severe pre- and postnatal growth retardation, craniosynostosis, distinctive facial features, acanthosis nigricans, deafness, mental retardation and progressive multi-organ involvement, particularly of the endocrine system, including hypothyroidism, hypogonadism, transitory hypoparathyroidism, and insulin resistance. In order to find a common mechanism explaining these multiple abnormalities, we searched for a possible defect in the signal transduction pathways from membrane to nucleus involving G-protein coupled receptors (GPCR). Adenylyl cyclase activity was evaluated by assaying c-AMP in the patient's cultured fibroblasts stimulated with several drugs and toxins acting on different effectors upstream of adenylyl cyclase. The preliminary results indicate a reduced cAMP accumulation in the patient, neither caused by constitutive activation of Gi nor inhibition of Gs signaling, and probably resulting from an alteration in the adenylyl cyclase system. The differential diagnosis with syndromes showing common clinical features with our patient is discussed.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/47. septo-optic dysplasia: a literature review.BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.- - - - - - - - - - ranking = 1.1715158321223keywords = nerve (Clic here for more details about this article) |
8/47. Adrenal toxicity in dogs and cats as a contributing cause of hormonal and immune destabilization.The adrenal cortex is regarded as the organ most vulnerable to toxicity within the endocrine system. The production of cortisol, among the many steroidal hormones produced by the cortex, may suffer as a result. In a veterinary clinical practice, household dogs and cats with a wide variety of diseases ranging from allergies to cancer commonly have a cortisol deficiency or defect that triggers endocrine imbalances and immune system destabilization. The causes of deficient cortisol are linked primarily to genetics but also to acquired adrenal damage likely stemming from environmental toxins. An innovative blood test to determine relevant endocrine-immune imbalances in pets and a treatment method based on low-dosage steroidal medication, as a form of cortisol replacement therapy, are described. Despite a prevailing reluctance to use steroidal medications long term because of the fear of side effects, extended and even life-time usage of these medications at low, physiologic dosages has been applied successfully for decades and appears to be gaining wider acceptance. The validity of a combined testing and treatment method for humans based on the veterinary model deserves investigation as a tool with which to identify and correct toxic damage to adrenal function.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/47. P.O.E.M.S. syndrome with complete recovery after treatment of a solitary plasmocytoma.The P.O.E.M.S. syndrome is a rare clinical entity that has been described mainly in japan. It is characterized by a progressive polyneuropathy with raised CSF protein content, organomegaly, endocrinopathy, skin changes and plasma cell dyscrasia. We report a new documented case associated with a solitary plasmocytoma of the 12th thoracic vertebra. Immunopathological and ultrastructural studies of the peripheral nerve did not disclose any immune-specific changes. Surgery and radiation therapy of the plasmocytoma allowed a complete recovery, with a 5-year follow-up. This case report illustrates the need for serial full skeletal survey, including scintigraphy, in middle-aged patients with progressive polyneuropathy of obscure origin.- - - - - - - - - - ranking = 1.3905052773741keywords = organ, nerve (Clic here for more details about this article) |
10/47. Phenotypic multiple endocrine neoplasia type 2b, without endocrinopathy or RET gene mutation: implications for management.The multiple endocrine neoplasia (men) type 2B is an autosomal dominant condition characterized by aggressive medullary C-cell tumors, pheochromocytoma, and a discrete physical appearance (marfanoid habitus, prominent corneal nerve fibers, thick lips, and mucosal and intestinal neuromas). A specific point mutation in the RET proto-oncogene is present in 95% cases. Occasionally cases present with the characteristic physical appearance of men 2B but no identifiable germline mutation or endocrinopathy, and it has been suggested that these patients may represent a discrete subgroup termed pure mucosal neuroma syndrome (MNS). We present a patient with MNS, who had a thyroidectomy at age 14.5 years with normal thyroid histology. Direct sequencing of all 20 exons of the RET gene showed no mutation. This case supports the suggestion that pure MNS can exist in the absence of an identifiable RET gene mutation. We suggest that prophylactic thyroidectomy is unnecessary in these patients although they should still be screened for endocrinopathy on a regular basis.- - - - - - - - - - ranking = 0.39050527737408keywords = nerve (Clic here for more details about this article) |
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