Hirschsprung disease

Hirschsprung disease
Updated: 02/22/2019
© Jun Wang, MD, PhD

General features
  • Developmental disorder
  • Most common affects rectosigmoid colon
  • More common in male, Down syndrome patients, Asian Americans
  • May be associated with other developmental abnormalities, esp. neurologic abnormalities
  • Familial cluster may present
  • Higher risk for female proband, or multiple family member involvement
  • Clinical presentation associated with abnormal gut movements
Etiology
  • Associated with various mutations
  • Most common gene affected: RET proto-oncogene
  • Associated syndromes
Down syndrome
MEN 2 (RET mutation)
Others: Congenital central hypoventilation syndrome, etc
  • Other congenital anomalies
Genitourinary anomalies: hydronephrosis, etc
Visual and hearing impairment
Congenital heart disease
Anorectal malformations
Pathogenesis
  • Absence of ganglia in distal colon, rarely may involve small bowel
  • Failure of relaxation
  • Tonic contraction resulting functional obstruction
Three major types
  • Short-segment: rectosigmoid colon, most common
  • Long-segment: Proximal to sigmoid colon
  • Total colonic aganglionosis: entire colon
Clinical presentations
  • Most cases may be diagnosed in neonatal period
  • Symptoms of distal intestinal obstruction
Bilious emesis
Constipation
Abdominal distension
Failure to pass meconium or stool
  • Delay in passage of first meconium
  • May have anal spasm
Radiologic features
Pathological features
Signs suggestive of work ups
  • Symptoms of obstruction
  • Failure to pass meconium within 48 hours of birth
  • Constipation in a patient with associated conditions such as Down syndrome
  • Constipation with abdominal distension, tight anal sphincter
  • Squirt sign: Forceful expulsion of gas and stool as the finger is withdrawn from the anus after the digital rectal examination, particularly in infants
Treatment
  • Surgery
  • Frozen section to confirm presence of ganglion cells at the proximal margin of bowel intended for anastomosis
  • Managements of associated anomalies
Outcomes
  • Fecal incontinence
  • Constipation
  • Enterocolitis
  • Urological/sexual: urinary incontinence and erectile dysfunction


Back to GI tract congenital disorders
Back to contents

Comments

Post a Comment

Popular posts from this blog

Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas...
Read more

Anemia

Anemia Updated: 07/13/2024 © Jun Wang, MD, PhD   General features Decrease in red cell mass Hemoglobin: Levels of hemoglobin in a specific volume of whole blood Hematocrit: Fraction of whole blood composed of red blood cells Red cell count: Quantity of red cell in a specific volume of whole blood Three major groups based on RBC sizes Microcytic Normocytic Macrocytic Three major causes Blood loss: acute or chronic Increased red cell destruction: hemolysis Reduced production: marrow failure due to genetic abnormality or nutritional deficiency Etiology Genetic abnormality Hemoglobinopathies RBC cytoskeletal abomorlities Enzyme abnormalities Fanconi anemia Nutritional deficiencies: iron, VB12, folate, general malnutrition Physical etiologies: trauma, burns, frostbite, prosthetic valves, etc Chronic diseases: chronic infections, neoplasia, autoimmune disorders, kidney or liver diseases, etc Infectious diseases: hepatitis, sepsis , malaria, e...
Read more

Lymphoid neoplasms

Lymphocytic neoplasms Updated: 05/17/2020 © Jun Wang, MD, PhD Terminology Lymphoma : Proliferations forming discrete tissue masses Leukemia : Widespread involvement of the bone marrow and usually the peripheral blood Any "lymphoma" can present with or evolve to a leukemic picture, and any "leukemia" can occasionally present with a mass lesion Other hematology terms Important risk factors Immunodeficiency (primary or secondary) Autoimmune disorders Viruses (HIV, KSHV/HHV8, HTLV-1) H. pylori infection Radiation Chemotherapy Diagnostic approaches Complete history, especially those with possible epidemic characters, such as Burkitt lymphoma CBC, Bone marrow Morphology/immunohistochemistry Immunofluorescence flow cytometry Cytogenetic studies Molecular studies Commonly used markers All lymphomas: CD45 B-cell neoplasms: CD5, CD10, CD19, CD20, CD79a, CD23, bcl2, bcl6, cyclin D1, light chai...
Read more