obsolete Shwachman-Diamond type metaphyseal dysplasia

Shwachman-Diamond Syndrome: A Rare Multi-System Disease

Shwachman-Diamond syndrome (SDS) is a rare multi-system disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and skeletal abnormalities. The condition affects many parts of the body, particularly the bone marrow, pancreas, and bones.

Key Features:

• Exocrine Pancreatic Insufficiency: A hallmark feature of SDS is the inability of the pancreas to produce digestive enzymes, leading to malabsorption and malnutrition [2].
• Impaired Hematopoiesis: The condition affects the production of blood cells in the bone marrow, resulting in chronic and usually mild neutropenia (low white blood cell count) [5][7].
• Skeletal Abnormalities: SDS is associated with metaphyseal chondrodysplasia, a rare skeletal disorder characterized by short stature and delayed appearance but subsequent normal development of secondary ossification centers [9].

Other Features:

• Short stature and dwarfism are common in individuals with SDS [4][6].
• The condition can also affect the hematologic system, leading to anemia and bleeding disorders [3].
• Pancreatic exocrine insufficiency is considered a universal feature of SDS, while bone marrow dysfunction is also a common finding [8].

References:

[1] Mar 1, 2020 — Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones. [2] by A Nelson · 2018 · Cited by 31 — Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure. [3] by L Burroughs · 2009 · Cited by 206 — Shwachman Diamond syndrome (SDS) is a rare autosomal recessive, multi-system disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis ... [4] Shwachman-Diamond syndrome (SDS) is a rare multiorgan disease characterized by metaphyseal chondrodysplasia, dwarfism, pancreatic exocrine insufficiency, ... [5] Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency. [6] Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder characterized by short stature, exocrine pancreatic insufficiency, and hematologic defects. [7] Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency. [8] by O Mäkitiea · 2004 · Cited by 157 — Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman–Diamond syndrome (SDS) whereas. [9] May 23, 2021 — Metaphyseal (Chondro) Dysplasia in SDS is characterised by short stature, delayed appearance but subsequent normal development of secondary ...

Common Signs and Symptoms

Individuals affected by Shwachman-Diamond type metaphyseal dysplasia, also known as SDS, often exhibit a range of characteristic signs and symptoms. These can include:

• Short stature: A common finding in almost all affected children, with short stature being an early indicator of the condition [1].
• Abnormal bone development: Metaphyseal dysplasia affecting the rib cage and/or bones in the arms and/or legs is a hallmark feature of SDS [2].
• Recurrent infections: Due to neutropenia (low white blood cell count), affected individuals are prone to recurrent infections, which can be a significant concern [3].
• Failure to thrive: This is often multi-factorial, resulting from pancreatic insufficiency, feeding difficulties, and other complications [4].

Additional Characteristics

Other notable features of SDS include:

• Delayed bone age and maturation: Metaphyseal dysplasia can lead to delayed bone development, contributing to short stature and other skeletal abnormalities [5].
• Skeletal abnormalities: A broad spectrum of skeletal issues has been observed, with metaphyseal dysplasia being the most common symptom [6].

Clinical Manifestations

The condition typically presents in neonates with symptoms such as:

• Diarrhea
• Weight loss
• Failure to thrive
• Eczema
• Otitis media (middle ear infection)
• Pneumonia

By 2 years of age, affected individuals may exhibit dwarfism [7].

Comparison with Other Types

It's worth noting that other types of metaphyseal dysplasia, such as Schmid and Spahr types, have distinct characteristics. For example:

• Schmid metaphyseal dysplasia: Has more severe metaphyseal changes but no neutropenia or malabsorption.
• Spahr type metaphyseal dysplasia: Exhibits minimal metaphyseal changes [8].

References: [1] A Nelson (2018) - Cited by 31 [2] A Nelson (2018) - Cited by 31 [3] L Burroughs (2009) - Cited by 206 [4] L Burroughs (2009) - Cited by 206 [5] O Mäkitiea (2004) - Cited by 157 [6] O Mäkitiea (2004) - Cited by 157 [7] Jan 17, 2019 - [8] Jan 17, 2019 -

Diagnostic Tests for Shwachman-Diamond Syndrome (SDS)

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple systems in the body. Diagnosing SDS can be challenging, but several diagnostic tests are available to confirm the condition.

• Genetic Testing: The most accurate and fastest way to diagnose SDS is through genetic testing [5]. Over 90% of patients have mutations in a gene called SBDS. This test detects heritable germline variants and should not be used for detecting somatic variants in tumor tissue [8].
• Radiographs of the Bone: Radiographs (X-rays) of the bone are useful as a screening diagnostic test for SDS [6]. Osteopenia is seen in most patients, but rarely results in clinical osteoporosis.
• Marrow Evaluation: Marrow evaluation may be performed to assess the condition of the bone marrow and detect any abnormalities [1].
• Other Diagnostic Tests: Differential diagnoses include cystic fibrosis, Pearson syndrome, Fanconi anemia, Johanson-Blizzard syndrome, and others [9]. A broad spectrum of skeletal abnormalities has been observed, with metaphyseal dysplasia of ribs and long bones being the most common symptom [7].

Note: The diagnostic tests mentioned above are for Shwachman-Diamond syndrome (SDS), which is an obsolete term. The current term used to describe this condition is Shwachman-Diamond syndrome or Shwachman-Bodian-Diamond syndrome.

References: [1] - Context result 1 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Based on the search results, it appears that there are limited treatment options available for Shwachman-Diamond syndrome (SDS) associated metaphyseal dysplasia.

• According to search result [6], metaphyseal dysplasia has been reported in about 50% of patients with SDS. However, no specific drug treatment is mentioned.
• Search result [11] mentions that skeletal dysplasia usually presents with metaphyseal changes in the long bones and costochondral junctions, but does not provide any information on drug treatment for this condition.

However, it's worth noting that search result [10] mentions that "Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome" are available. These guidelines may provide more information on the management of SDS associated metaphyseal dysplasia.

Unfortunately, there is no specific mention of drug treatment for obsolete Shwachman-Diamond type metaphyseal dysplasia in the search results provided. However, it's possible that newer research or guidelines may have been published since then.

Possible Treatment Options:

• Pancreatic enzyme replacement and growth factor therapy (mentioned in search result [6]) may be beneficial for patients with SDS associated metaphyseal dysplasia.
• Antibiotic therapy prophylaxis may be sufficient to avoid infections, as mentioned in search result [7].
• However, it's essential to consult a medical professional or the latest guidelines for accurate and up-to-date information on treatment options.

References:

[6] - Metaphyseal dysplasia has been reported in about 50% of patients with SDS. [11] - Skeletal dysplasia usually presents with metaphyseal changes in the long bones and costochondral junctions.

Differential Diagnoses for Obsolete Shwachman-Diamond Type Metaphyseal Dysplasia

The differential diagnoses for obsolete Shwachman-Diamond type metaphyseal dysplasia may include:

• Cystic Fibrosis: This genetic disorder can cause pancreatic exocrine insufficiency, which is a characteristic feature of Shwachman-Diamond syndrome. However, cystic fibrosis typically presents with respiratory symptoms and other distinct features [1].
• Pearson Syndrome: This rare autosomal recessive disorder affects the bone marrow and pancreas, similar to Shwachman-Diamond syndrome. However, Pearson syndrome is characterized by a more severe bone marrow failure and a higher risk of leukemia [2].
• Fanconi Anemia: This genetic disorder can cause bone marrow failure, which may be confused with Shwachman-Diamond syndrome. However, Fanconi anemia typically presents with additional features such as congenital abnormalities and a higher risk of cancer [3].
• Johanson Bladder Syndrome: This rare condition can cause urinary tract symptoms that may be mistaken for Shwachman-Diamond syndrome. However, Johanson bladder syndrome is characterized by distinct urinary tract abnormalities [4].

References:

[1] Context 6 [2] Context 6 [3] Context 6 [4] Context 7