Edit concept Question Editor Create issue ticket

Pearson Syndrome

Pearson Marrow Pancreas Syndrome


Presentation

  • This case is presented for its rarity, hematological features and associated novel mitochondrial mutation.[bloodjournal.org]
  • Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients.[onlinelibrary.wiley.com]
  • Using long PCR to specifically amplify duplicated mtDNA, we found duplications in all biopsy and postmortem samples, indicating that duplications had been present in the patient since his early life, and that the number of duplications increased with[deepdyve.com]
  • We present the case of a 2-year-old girl, who suffered severe gastrostomy site infection during a period of neutropenia and was successfully treated with granulocyte colony stimulating factor (GCSF).[thieme-connect.com]
  • We present the case of a 2-year-old girl, who suffered severe gastrostomy site infection during a period of neutropenia and was successfully treated with granulocyte colony stimulating factor (GCSF).[docksci.com]
Pallor
  • […] mitochondrial DNA defects resulting in refractory sideroblastic anaemia, vacuolization of bone marrow precursors, exocrine pancreatic dysfunction and other metabolic defects Material and Methods - A 6 month old infant presented with complaints of progressive pallor[bloodjournal.org]
  • During a routine checkup at the age of 6 months, marked pallor was noted and hospital admission was initiated. At that time, the hemoglobin level had dropped to 2.9 g/dl.[docksci.com]
Fatigue
  • These disorders may result in short stature, a delay in reaching puberty, excessive fatigue, and/or muscle cramps. The relationship between KSS and endocrine abnormalities is not fully understood.[rarediseases.org]
Wound Infection
  • After informed consent was obtained, the diagnosis was confirmed by PCR analysis of mtDNA, which Fig. 1 a PEG wound infection during neutropenia in the reported child with Pearson syndrome. b Simultaneous development of multiple deep cutaneous purulent[docksci.com]
Recurrent Bacterial Infection
  • During the following 5 years, the patient developed thrombocytopenia and neutropenia with recurrent bacterial infections. BM aspirate confirmed severe tri-linear hypoplasia and the presence of cytoplasm vacuolization in the myeloid precursors.[nature.com]
Failure to Thrive
  • Splenic atrophy and impaired cardiac function have also been reported. [12, 13, 14, 15, 16] Failure to thrive is common. Several factors are likely contributory.[emedicine.medscape.com]
  • Endoscopically placed gastrostomy (PEG) tubes are essential in some patients with PS for the treatment of failure to thrive in order to achieve normal growth and weight gain (Seneca S et al., Clin Genet 1997; 51: 338–342).[thieme-connect.com]
  • Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy.[enerca.org]
  • […] to thrive and fast breathing for 2 days.[bloodjournal.org]
  • Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients.[onlinelibrary.wiley.com]
Chronic Diarrhea
  • The result is malabsorption, chronic diarrhea, and poor growth or failure to thrive. Studies have reported that 23-63% of patients with Pearson syndrome do not suffer from pancreatic insufficiency.[emedicine.medscape.com]
Perianal Ulcer
  • The patient further developed diarrhea, which, in turn, caused a rash and eventually infection resulting in multiple deep cutaneous Fig. 1b). purulent perianal ulcers ( Examination of wound swabs led to detection of enterobacter cloacae.[docksci.com]

Workup

Macrocytic Anemia
  • PS was diagnosed in a 4-month-old female child with macrocytic anemia and mild hyperlactacidemia.[nature.com]

Treatment

  • Furthermore, detailed information on treatment of neutropenia in PS is scarce.[docksci.com]
  • We discuss the risks of PEG tube placement during neutropenia and the role of GCSF treatment in PS patients.[thieme-connect.com]
  • Treatment options include frequent blood transfusions, pancreatic enzyme replacement therapy, and treatment of infections. Sadly, many children with Pearson syndrome die during infancy.[rarediseases.info.nih.gov]
  • But, through the course of William's treatment, it became evident that there were talented researchers with the resources to look at this problem," said Jeff.[abc7chicago.com]

Prognosis

  • Pearson's syndrome is a rare cause of sideroblastic anaemia, it presents in infancy, carrying a grave prognosis and requires high index of suspicion. Clinical picture is highly variable due to Mitochondrial DNA heteroplasmia.[bloodjournal.org]
  • […] tubular insufficiency, exocrine and endocrine pancreas insufficiency, failure to thrive, lactic acidosis with increased lactate/pyruvate ratio, urinary excretion of lactate and related organic acids, hyperlipidemia with liver steatosis and skin lesions. 2 Prognosis[nature.com]
  • The prognosis for Leigh syndrome is poor. Depending on the defect, individuals typically live a few years.[rarediseasesnetwork.org]
  • It has been shown to improve the prognosis. Cochlear implants should be used in patients with significant sensorineural deafness [ 10 ].[academic.oup.com]

Etiology

  • Abstract Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys.[jci.org]
  • It is well known that the neurological deterioration is a possible occurrence in patients affected by PS. 3, 4, 5, 6, 7 The etiology of seizures and unconsciousness associated with magnetic resonance imaging (MRI) abnormalities occurred in our patient[nature.com]

Pathophysiology

  • […] for S Dallorso in: Search for E Castagnola in: Search for M C Schiaffino in: Search for C Bruno in: Search for A Rossi in: Search for G Dini in: Search for B Cappelli in: Further reading Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology[nature.com]

Prevention

  • Yet, there are currently no data available on the use of preventive GCSF treatment in these patients or PS patients.[docksci.com]
  • Early diagnosis, palliative treatment and follow-up can prevent possible complications. CONFLICT OF INTEREST STATEMENT None declared. FUNDING No funding to report.[academic.oup.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!