Primary adipsia and severe hypernatremia in a Pit Bull dog / Adipsia primária e hipernatremia severa em um cão Pit Bull

Primary adipsia is a rare condition in which there is failure in the activation threshold of the hypothalamic osmoreceptors, leading to osmolality imbalance. Here, we reported the case of a Pit Bull dog with an altered level of consciousness (started after weaning) and adipsia. There was an increase in plasma osmolality (444 mOsm/kg), sodium (223.7 mg/dL), and chlorine (173 mg/dL) levels. Based on the suspicion of primary adipsia, water was administered via a nasogastric tube, with clinical improvement. The owner was instructed to supply water with food. Eight months after discharge, the dog returned with parvovirus and died. In the anatomopathological examination, no structural changes were observed in the central nervous system. To our knowledge, this is the first report of hypernatremia due to adipsia in a Pit Bull dog, showing that this is a differential diagnosis that should be considered in this breed.

Adipsia primária é uma rara condição em que há falha no limiar de ativação dos osmoreceptores hipotalâmicos, levando ao desequilíbrio da osmolalidade. Este artigo tem como objetivo relatar o caso de um cão da raça Pit Bull apresentando alteração no nível de consciência (iniciado após o desmame) e adipsia. Foi verificado aumento da osmolalidade plasmática (444 mOsm/kg), sódio (223,7 mg/dL) e cloro (173 mg/dL). Baseado na suspeita de adipsia primária, iniciou-se administração de água via sonda nasogástrica, com melhora clínica. O tutor foi orientado a fornecer água junto a alimentação. Oito meses após alta, o paciente retornou com parvovirose e veio a óbito. No exame anatomopatológico, não foram observadas alterações estruturais no sistema nervoso central. Este é o primeiro relato de hipernatremia por adipsia em um cão Pit Bull, mostrando que este é um diagnóstico diferencial que deve ser considerado nesta raça.

Hamartomas hipotalámicos: distintas formas de debut. Casos clínicos / Hypothalamyc hamartomas: different ways of clinical debut. Cases report

Los hamartomas hipotalámicos son malformaciones no neoplásicas de sustancia gris compuestas por neuronas hiperplásicas. Suelen ser lesiones pequenas localizadas en la base del cerebro, en el piso del tercer ventrículo y, generalmente, asintomáticas. Sin embargo, pueden ocurrir con alteraciones conductuales-cognitivas, crisis epilépticas y/o signos de pubertad precoz central en función de la localización en la que se encuentren. Se presentan dos pacientes de 2 años 8 meses y 7 años, con presencia de hamartomas hipotalámicos diagnosticados tras el estudio de pubertad precoz central. La paciente de menor edad presenta, además, crisis gelásticas, típicamente asociadas a hamartomas hipotalámicos. Tras los hallazgos clínicos y radiológicos, se trataron con análogos de gonadotropinas, y se observó una regresión de los signos puberales y una no progresión del tamano de los hamartomas.

Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.

Síndrome de deprivación glucocorticoidea / Glucocorticoid deprivation syndrome

El síndrome de deprivación glucocorticoidea se manifiesta en pacientes con hipercortisolismo endógeno después de la cirugía, y en individuos que han recibido tratamientos con dosis elevadas de glucocorticoides por más de 2 semanas. El eje hipotálamo-hipófiso-adrenocortical regula la secreción diaria de cortisol y presenta un ritmo circadiano. El ritmo puede perderse por estrés, enfermedad, o por la administración farmacológica de glucocorticoides. La retirada de corticoides puede causar insuficiencia adrenal secundaria, síndrome de retirada o deprivación de corticoides, y reactivación de la enfermedad de base para la cual fueron indicados. La insuficiencia adrenal secundaria es la complicación más temida, y constituye la principal causa de crisis adrenal e insuficiencia adrenal secundaria en la actualidad. El síndrome de retirada o deprivación de corticoides es autolimitado, y puede ser tratado fácilmente con el incremento temporal de la dosis de corticoide, seguido por una retirada lenta de este. Es necesario conocer las ventajas y limitaciones que trae aparejado el tratamiento con glucocorticoides, así como su descontinuación gradual. Debe evaluarse adecuadamente el estado del eje hipotálamo-hipófiso-adrenocortical al término del tratamiento prolongado, o con dosis suprafisiológicas de glucocorticoides(AU)

Glucocorticoid deprivation syndrome occurs in patients with endogenous hypercortisolism after surgery and in individuals receiving treatments at high doses of glucocorticoids for more than 2 weeks. The hypothalamus-hypophysis-adrenocortical axis regulates the daily cortisol secretion and presents a Circadian rhythm that may be affected by stress, disease or glucocorticoid administration The corticoid withdrawal may cause secondary adrenal insufficiency, corticoid deprivation or withdrawal syndrome and reactivation of the underlying disease for which they were prescribed. The secondary adrenal insufficiency is currently the most serious complication and the main reason for adrenal crisis and secondary adrenal insufficiency. The corticoid deprivation or withdrawal syndrome is self-limited and may be easily treated with temporary increase of the corticoid dose, followed by slow withdrawal of this agent. It is then necessary to find out the advantages and limitations of the glucocorticosteroid treatment and its gradual cessation. The state of the hypothalamus-hypophysis-adrenocortical axis should be adequately evaluated at the end of a long treatment, or with the use of supraphysiological doses of glucocorticoids(AU)

Amenorrea hipotalámica: consideraciones etiológicas y clínicas a raíz de una paciente / Hypothalamic amenorrhea: report of one case

Hypothalamic amenorrhea is secondary to the dysfunction of the hypothalamic pacemaker that regulates the pulsatile secretion of gonadotropin releasing hormone (GnRH). We report a 21 years old female with an isolated and persistent hypogonadotropic hypogonadism probably of congenital origin. The patient had a good olfactory function, did not have anatomical alterations and two GnRH stimulation tests showed a pre puberal pattern. Hormone replacement therapy allowed her to complete her puberal development.

Hamartoma hipotalámico asociado a dos quistes aracnoideos: a propósito de un caso / Hypothalamic hamartoma associated with arachnoid cyst: report of a case

Hypothalamic hamartomas are heterotopias of the nervous tissue which are similar to the grey matter of the hypothalamus. They may cause precocious puberty and/or gelastic seizures. We present the case of a patient who began her pubertal development at the age of 9 months. Cranial magnetic resonance imaging showed a hypothalamic hamartoma associated with middle cranial fossa and pineal region arachnoid cysts, a very rare association.

Los hamartomas hipotalámicos son heterotopias de tejido nervioso que se asemejan a la sustancia gris del hipotálamo. Pueden causar pubertad precoz y/o crisis gelásticas. Presentamos el caso de una paciente que a los 9 meses de edad comenzó desarrollo puberal y que en la resonancia magnética craneal se objetivó un hamartoma hipotalámico asociado a dos quistes aracnoideos, uno en fosa craneal media y otro en región pineal, asociación que es muy infrecuente.

Hematologic risk factors for stroke in Saudi children

To explore the hematologic risk factors for stroke in a cohort of Saudi children. We evaluated children at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, during the periods July 1992 to February 2001 [retrospective study] and February 2001 to March 2003 [prospective study]. Investigations for suspected cases included neuroimaging, transcranial Doppler [TCD] for cases of sickle cell disease [SCO], and Duplex scan. Hemostatic assays included coagulation screening tests, tests of thrombin generation and fibrinolysis, coagulation inhibitors, and activated protein C resistance. During the study period, 104 Saudi children [aged one month to 12 years] with stroke were seen. The mean age of the cohort was 27.1 months [SD = 39.3 months] and median was 6 months. Ischemic strokes accounted for the majority of cases [76%]. A major risk factor was identified in 93 of 104 cases of stroke [89.4%]. Hematologic disorders were the most common [46.2%], followed by prothrombic disorders [31.7%]; microcytic hypochromic anemia [26%]; sickle cell disease [SCD], or SC beta-thalassemia, [11.5%], and factor IX deficiency [2.9%]. Raised anticardiolipin antibodies [13/49, 26.5%] was the most frequent abnormality. Deficiencies of the natural anticoagulants [protein S, protein C and antithrombin III] were as follows: protein S [15/70, 21.4%]; protein C [15/70, 21.4%] and combined deficiency of 2 or more inhibitors [9/70, 12.9%]. Activated protein C resistance has not been detected. Contrary to the findings of previous studies from Saudi Arabia, SCD is a common risk factor and is severe, as it resulted in multiple strokes. Moyamoya syndrome was diagnosed in 2 patients with SCD, one of whom had revascularization surgery [encephaloduroarteriosynangiosis]. Assessment of children with SCD at risk of stroke was helped by the introduction of TCD followed by neuroimaging, using MRI and magnetic resonance angiography. The study strongly highlights the importance of prothrombotic disorders and the severe phenotype of SCD as risk factors for stroke in Saudi children.

Anoftalmía bilateral por displasia septo-óptica: síndrome de De Morsier / Anophthalmia bilateral caused by septo-optic dysplasia: the De Morsier syndrome

Introducción: La displasia septo-óptica es una enfermedad congénita caracterizada por hipoplasia de uno o ambos nervios ópticos que se acompaña de malformaciones cerebrales de la línea media y disfunción hipotálamo-hipofisiaria. Objetivo: Mostrar un caso ilustrativo del estudio de pacientes con anoftalmía y retraso psicomotor, con énfasis en los diagnósticos diferenciales. Caso clínico: Lactante femenina de 18 meses de edad con anoftalmía bilateral, asociada con ausencia en el desarrollo de los nervios ópticos e hipoplasia del septum pellucidum corroborada por tomografía craneal, el cariotipo normal descartó la posibilidad de cromosomopatía. Conclusión: Caso clínico esporádico de displasia septo-óptica: síndrome de De Morsier extremo sin manifestaciones neurológicas o endocrinológicas.

Evolución menstrual y reproductiva favorable en mujeres adultas, que presentaron en la adolescencia trastornos menstruales por disfunción hipotalámica con respuesta alterada al clomifeno / Favorable reproductive and menstrual evolution in women with hypothalamic dysfunction and lack of response to clomiphene

Background: Hypothalamic dysfunction is a cause of menstrual disturbances in women, in whom other diseases have been discarded. This condition is characterized by a failure of the GNRH pulse generation system and is associated to psychological and environmental factors. A lack of ovulatory response to the administration of clomiphene can be a sign of bad prognosis in hypothalamic dysfunction. Aim: To report the natural history of patients with hypothalamic dysfunction and a bad or deficient response to the administration of clomiphene. Patients and methods: Fifty patients with hypothalamic dysfunction, that consulted for menstrual disturbances at the age of 15 to 20 years old, were studied. All received clomiphene and 31 had an ovulatory response, 12 had menses without ovulation and 7 did not menstruate. Of these 19 women eleven were interviewed again about their menstrual and reproductive history, after a lapse of 9 to 17 years of loss from follow up. Results: Eight of the eleven women had stressful events during adolescence (going away from family house in 3, starting university studies in 3, migration out of the natal country in one and non competitive physical activity in one). All restarted their menses and eight with active sexual life had spontaneous pregnancies, giving birth from two to five children. Ovulatory cycles were documented in women without active sexual life. Conclusions: In teenagers with hypothalamic dysfunction and menstrual disturbances, a deficient or bad response to clomiphene does not necessarily indicate a bad prognosis in terms of menses or fertility

¿Tiene la oligomenorrea un siginificado patológico?: importancia de este síntoma en medicina interna / Has oligomenorrhea a pathological meaning?: the importance of this symptom in internal medicine

Background: Oligomenorrhea, defined as a menstrual cycle lasting 36 to 90 days, can be a normal condition in the first years after the menarche. When it persists or appears after a period of normal menstrual cycles, an underlying illness must be sought. Aim: To assess ovulation and causes of anovulatory cycles in women with oligomenorrhea, compared with causes of secondary amenorrhea. Patients and methods: One hundred one women of less the 35 years old, presenting with oligomenorrhea persisting 5 years after menarche or lasting more than two years after a period of normal menstrual cycles, were studied. Ovulation was studied measuring serial plasma progesterone during normal or induced (with intramuscular progesterone) menstrual cycles. Results: Eighty nine percent of women had anovulatory oligomenorrhea. The main causes were polycystic ovarian disease in 51percent and hypothalamic dysfunction in 31percent. Thirty percent of women with secondary amenorrhea had polycystic ovarian disease and 14percent had hyperprolactinemia. Women older than 20 years old or with more than 10 years of gynecological age had a higher frequency of polycystic ovarian disease and a lower prevalence of hypothalamic dysfunction. Conclusions: There is a high frequency of anovulatory oligomenorrheas. Therefore, this symptom deserves a thorough endocrinological assessment to uncover underlying diseases. Special attention must be paid to polycystic ovary syndrome, due to its importance in internal medicine as a risk factor for myocardial infarction, high blood pressure, and type 2 diabetes mellitus

Amenorrea hipotalámica, concepto, clasificación y alternativas terapeúticas / Hipothalamic amenorrhea, concept, clasification and therapeutical alternatives

El desarrollo de amenorrea hipotalámica refleja generalmente una respuesta individual al stress ambiental y al propio estilo de vida. En la mayoría de los casos, no hay una anormalidad anatómica detestable del eje hipotálamo-hipófisis-ovario-endometrio. Numerosas evidencias sugieren que el defecto de base es una reducción de la actividad del generador hipotalámico de pulsos de GNRH. Los factores neuroendocrinos que regulan la función de este centro son parcialmente conocidos. El sistema opioidérgico y dopaminérgico han sido implicados como posibles factores en la reducción de la secreción pulsátil de GNRH. Debido a la naturaleza por lo general funcional del trastorno, se espera una reactivación de la actividad pulsátil de GNRH una vez superado los factores que lo desencadenaron. La persistencia de la anovulación obliga a una terapia de reemplazo hormonal fundamentalmente por el riesgo de terapia de reemplazo hormonal fundamentalmente por el riesgo de osteoporosis. En las pacientes que desean fertilidad, la inducción de ovulación con GNRH pulsátil es la alternativa terapéutica más efectiva

Puberdade precoce central por tumor hipotalâmico / Central precocious puberty by hypothalamic tumors

Descrevemos o caso de um menino com três anos de idade e puberdade precoce central por tumor hipotalâmico (hamartoma). O diagnóstico de processo expansivo do sistema nervoso central foi estabelecido pela tomografia computadorizada e ressonância magnética de crânio. As alteraçöes hormonais mais importantes na investigaçäo foram a elevaçäo do nível sérico de testosterona e a resposta das gonadotrofinas ao hormônio liberador das gonadotrofinas (GnRH). O tratamento com o agonista do GnRH, após a cirurgia, tornou-se útil para bloquear a progressäo da precocidade central.

Amenorréia hipotalâmica / Hypothalamic amenorrhea

Amenorréia hipotalámica funcional é um distúrbio no qual näo se detecta anormalidades anatômicas no eixo Hipotálamo-Pituitário-Ovário-Endométrico. Reflete uma resposta individual a fatores ambientais desencadeantes de stress e relacionados ao estilo de vida. Evidências atuais sugerem um defeito com decréscimo na atividade de liberaçäo do hormônio hipotalâmico gonadotrófico. Para mulheres com anovulaçäo persistente, a terapia de reposiçäo estrogênica pode ser feita induçäo da ovulaçäo com hormônio de liberaçäo gonadotrófico, podendo ser usado para corrigir a infertilidade

Neurología de las alteraciones neuroendocrinas / Neurology of neuroendocrinological disturbances

Se revisan las manifestaciones neurológicas de trastornos hipotalámicos, trastornos hipofisarios y enfermedades neuroendocrinas. Las enfermedades hipotalámicas se caracterizan por problemas de equilibrio hídrico, temperatura corporal, estado del conocimiento, sueño, emociones y comportamientos. Las lesiones hipofisarias producen cefalea, lesión de pares craneales, lesión de vías visuales y atrofia óptica. Las enfermedades neuroendocrinas producen varios trastornos neuromusculares, demencia y alteraciones difusas del sistema nervioso