Dataset Information

Pseudohypoparathyroidism, an often delayed diagnosis: a case series.

ABSTRACT: Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II). We report cases of four children (aged 8 to 13 years) in the winter season 2007-'08. The present work highlights the variable mode of presentation of pseudohypoparathyroidism and the difficulty of an early diagnosis. We stress the importance of a complete biochemical investigation of the calcium-phosphate metabolism to recognize typical biochemical alterations associated with this condition (hypocalcaemia, hyperphosphataemia with increased phosphate tubular reabsorption and elevated PTH levels) in spite of a phenotypic aspect that often lacks the presence of all the peculiar clinical features of Albright hereditary osteodistrophy.

SUBMITTER: Donghi V

PROVIDER: S-EPMC2740291 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Pseudohypoparathyroidism, an often delayed diagnosis: a case series.

Donghi Valentina V Mora Stefano S Zamproni Ilaria I Chiumello Giuseppe G Weber Giovanna G

Cases journal 20090528

Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II). We report cases of four children (aged 8 to 13 years) in the winter season 2007-'08. The present work highlights the variable mode of presentation of pseudohypoparathyroidism and the difficulty of an early diagnosis. We stress ...[more]

PMID: 19829854

Similar Datasets

Project description:RationaleAcute encephalopathy is a severe neurological complication of coronavirus disease 2019 (COVID-19). Most cases of acute encephalopathy associated with COVID-19 occur within several weeks of COVID-19 onset. We describe a case series of 6 patients who developed delayed encephalopathy (DE) after COVID-19.Patient concerns and diagnosesWe evaluated patients who recovered from COVID-19 and showed acute disturbance of consciousness or focal neurological deficits without recurrence of pneumonitis. Six patients, 2 females and 4 males, with ages ranging from 65 to 83 years were included. Durations of hospitalization due to COVID-19 were between 25 and 44 days. The severity of COVID-19 was moderate in 5 and severe in 1 patient. Patients were rehospitalized for acute disturbance of consciousness concomitant with postural tremor and, abnormal behavior, hemiplegia, aphasia, or apraxia between 34 and 67 days after the onset of COVID-19. Chest computed tomography showed no exacerbation of pneumonitis. Brain magnetic resonance imaging showed no specific findings except in 1 patient with an acute lacunar infarction. Electroencephalogram demonstrated diffuse slowing in all patients. Repeat electroencephalogram after recovery from encephalopathy demonstrated normal in all patients. One of the 6 patients had cerebrospinal fluid (CSF) pleocytosis. CSF protein levels were elevated in all patients, ranging from 51 to 115 mg/dL. CSF interleukin-6 levels ranged from 2.9 to 10.9 pg/mL. The immunoglobulin index was 0.39 to 0.44. Qlim(alb) < QAlb indicating dysfunction of the blood-brain barrier was observed in all patients. Severe acute respiratory syndrome coronavirus 2 reverse transcription polymerase chain reaction of CSF was negative in all patients. Neuronal autoantibodies were absent in serum and CSF.Interventions and outcomesImmunotherapy including steroid pulses was administered to 3 patients; however, symptoms of encephalopathy resolved within several days in all patients, regardless of treatment with immunotherapy, and their consciousness levels were recovered fully. Notably, postural tremor remained for 2 weeks to 7 months.LessonsIn our patients, DE after COVID-19 was characterized by symptoms of acute encephalopathy accompanied with tremor in the absence of worsening pneumonitis after the fourth week of COVID-19 onset. Our findings indicate blood-brain barrier dysfunction may contribute to the pathogenesis of DE after COVID-19.

Dataset Information

Pseudohypoparathyroidism, an often delayed diagnosis: a case series.

Publications

Pseudohypoparathyroidism, an often delayed diagnosis: a case series.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets