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Key clinical message: Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect characterized by pituitary insufficiency with symptomatology depending on associated hormonal deficits. Diagnosis is often delayed because many clinical findings. The gold standard for detection is pituitary MRI showing absence of pituitary stalk, anterior pituitary hypoplasia, and postpituitary ectopy. The treatment remains polyhormonal substitution. Abstract: Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect. It is characterized by pituitary insufficiency with symptomatology depending on associated hormonal deficits. Diagnosis of PSIS is often delayed probably because of various clinical characteristics findings. Pituitary imaging abnormality is a specific indicator of hypopituitarism. The symptomatological triad associates a very thin or interrupted pituitary stalk, an ectopic or absent pituitary gland and hypoplasia of the anterior pituitary gland. The gold standard for detection is pituitary MRI. Some genetic factors are associated with the disease. The treatment remains polyhormonal substitution depending on the associated deficits. We reported the case of a 14-year-old child with growth retardation in whom the biological work-up and pituitary MRI concluded that the diagnosis was PSIS with growth hormone deficiency. The treatment implemented was a recombinant growth hormone treatment. The immediate outcome was marked by a regression of symptoms.
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lynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segregation increased 1 homolog 2 (PMS2) or the EpCAM (Epithelial CellAdhesionMolecule) gene, which causes the inactivation of MSH2. Patients with this syndrome have a high relative risk of developing cancers at a young age, led by colorectal cancer (CRC) and endometrial cancer in females. The diagnosis is suspected when the patient's personal and family history meets the Amsterdam or Bethesda criteria. It is guided by immunohistochemistry (IHC) and/or molecular biology that show loss of expression of one or more proteins of the MMR system and microsatellite instability on tumor DNA. In case of positive IHC and/or molecular biology, the patient should be referred to an oncogenetic consultation for a definitive diagnosis. We present the case of a 49-year-old patient who presented an anamic syndrome in metrorrhagia. After a clinical, imaging, biological and anatomopathological examination, the diagnosis of LS was made.
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Chemotherapy may be responsible for central and/or peripheral neurotoxicity. These neurological complications are frequent but little known. Some molecules are more providers, responsible for acute or late complications, sometimes not reversible. Some manifestations such as acute encephalopathy and acute reversible encephalopathy are increasingly understood. We report here a case of acute ifosfamide-induced encephalopathy (EII) with brain damage resolved after discontinuation of this treatment in a 13-years-old child.
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Muscle metastases remain rare as a secondary localization for cancers in general and lung cancer in particular. They are discovered incidentally in most cases and in the advanced stages of cancer. We report the case of a 60-year-old man, followed for squamous cell carcinoma, who was found to have muscle metastases during the follow-up of associated muscle pain. This case highlights the existence of these metastases in lung squamous cell carcinoma, rare as it is, and requires particular attention from practitioners in the follow-up of patients to detect these cases as early as possible and improve patient survival. Computed Tomography (CT) remains an excellent exam for the detection of skeletal metastasis.