Currarino syndrome

Currarino Syndrome: A Rare Congenital Disorder

Currarino syndrome, also known as Currarino triad or syndrome, is a rare autosomal dominant hereditary condition characterized by the presence of three main features:

• Sacral agenesis abnormalities: Abnormally developed lower spine
• Anorectal malformation: Most commonly in the form of anorectal stenosis (narrowing of the anal canal)
• Presacral mass: Consisting of a teratoma, anterior sacral meningocele (a type of cyst), or both

These three features occur together in approximately 20% of cases, making up the classic triad of Currarino syndrome. The condition is rare, occurring in about 1 in 100,000 people.

Additional Features

In addition to the classic triad, other features may be present in individuals with Currarino syndrome, including:

• Neonatal-onset bowel obstruction
• Chronic constipation
• Recurrent perianal sepsis (infection of the anal area)
• Renal/urinary tract abnormalities

Causes and Inheritance

Currarino syndrome is caused by dorsal-ventral patterning defects during embryonic development. The major causative gene is MNX1, encoding a homeobox protein. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

References

• [1] Currarino syndrome is characterized by the triad of sacral malformation, presacral mass, and anorectal malformations (CS) [5]
• The condition occurs in approximately 1 in 100,000 people [4]
• MNX1 gene is the major causative gene for Currarino syndrome [12]

Common Signs and Symptoms of Currarino Syndrome

Currarino syndrome, a rare congenital disease, presents with a triad of symptoms that can vary in severity and frequency among affected individuals. The most common signs and symptoms include:

• Chronic Constipation: This is the most frequent symptom, often caused by compression of the rectum by an anterior sacral mass [5][7].
• Anorectal Malformations (ARMs): These can range from anal stenosis to more complex anomalies, such as imperforate anus or rectal atresia [3][4][6].
• Presacral Mass: A tumor-like growth located in front of the sacrum, which can cause compression and lead to symptoms like constipation [5][7].

Additional symptoms may include:

• Incontinence: Urinary or fecal incontinence due to anorectal malformations or presacral mass compression [1][10].
• Bowel Obstruction: Infrequent bowel movements or complete blockage of the intestines, often presenting in infancy [2][10].
• Gynaecological and Renal Malformation: Rarely associated with Currarino syndrome, these malformations can occur alongside anorectal anomalies [2].

It's essential to note that each individual may experience a unique combination of symptoms, and the severity can vary greatly. A proper diagnosis by a medical professional is necessary for accurate assessment and treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9 (not directly relevant, but provides context) [10] Context result 10

Diagnostic Tests for Currarino Syndrome

Currarino syndrome, also known as Currarino triad or sacrococcygeal teratoma with anorectal malformation and presacral mass, is a rare congenital disorder. Diagnostic tests play a crucial role in establishing the diagnosis of this condition.

Imaging Studies

• Plain Film X-Ray: While not always diagnostic on its own, plain film X-ray can show abnormalities such as sacral dysgenesis or vertebral anomalies [8].
• CT (Computed Tomography): CT scans are useful for detecting presacral masses and evaluating the extent of sacral dysgenesis [9]. However, MRI is considered a better method than CT for diagnosing Currarino syndrome.
• MRI (Magnetic Resonance Imaging): MRI has significant advantages in diagnosing complete CS, especially in revealing the extent of sacral dysgenesis and presacral masses [7].

Genetic Testing

• MNX1 Gene Testing: Genetic testing can be offered to confirm the diagnosis of Currarino syndrome. However, no international criteria currently exist for genetic testing.

Other Diagnostic Tests

• Clinical Findings: Diagnosis is often based on clinical findings alone, including sacral dysgenesis, presacral mass, and anorectal malformation [2].
• Ultrasonography: Ultrasonography can be used to further support the diagnosis by detecting presacral masses or other abnormalities.

Recommended Diagnostic Approach

A multidisciplinary diagnostic and therapeutic protocol is recommended for Currarino syndrome. This approach includes radiologic evaluation, molecular genetic diagnosis, and a detailed analysis of the disease [5].

References:

[1] Akay S (2015) - Radiologic imaging modalities in diagnosing Currarino syndrome. [2] Context 2 [3] Context 4 [5] Martucciello G (2004) - A multidisciplinary diagnostic and therapeutic protocol for Currarino syndrome. [7] Chen J (2022) - CT and MRI in diagnosing complete CS. [8] Ali MM (2021) - Diagnostic tests for Currarino syndrome. [9] Bevanda K (2020) - Radiologic imaging modalities in diagnosing Currarino syndrome.

Treatment Options for Currarino Syndrome

Currarino syndrome, a rare congenital disease, requires a comprehensive treatment approach that addresses its various manifestations. While there is no consensus on the optimal conservative management, surgical correction and medical therapy are often employed to manage the condition.

• Surgical Correction: Surgical intervention may be necessary to correct anorectal malformations, which can include procedures such as colostomy or rectoplasty.
• Conservative Management: Conservative management strategies, such as stool softening agents, may be used to alleviate symptoms and improve quality of life.

Medical Therapy

While there is limited information on the specific medical therapy for Currarino syndrome, treatment often involves a multidisciplinary approach that includes:

• Pain Management: Pain relief measures are crucial in managing the condition.
• Infection Control: Infections can be a significant concern in patients with Currarino syndrome.

Emerging Therapies

Recent studies have explored the potential of emerging therapies, such as gene therapy and stem cell therapy, to treat Currarino syndrome. However, more research is needed to fully understand their efficacy and safety.

Consultation with a Healthcare Professional

It is essential to consult with a healthcare professional for personalized advice and treatment. They can provide guidance on the most appropriate course of action based on individual circumstances.

References:

• [1] Management depends on presenting features.
• [3] Conservative management (e.g. stool softening agents) may be used.
• [4] Defunctioning colostomy appears a reasonable option for megarectum with a huge fecal mass and deferring surgical treatment.
• [6] Treatment of the mass if it undergoes malignant transformation involves both a surgical and chemothereputic approach.

Differential Diagnoses for Currarino Syndrome

Currarino syndrome, a rare congenital malformation, can be challenging to diagnose due to its complex presentation. Here are some differential diagnoses that should be considered:

• Isolated sacrococcygeal teratoma: This condition is characterized by the presence of a tumor at the base of the spine and coccyx. The recognition of an associated anterior sacral meningocele and scimitar sacrum can help in diagnosis [4].
• Hirschsprung's disease: A congenital disorder that affects the large intestine, causing chronic constipation. While it is not directly related to Currarino syndrome, it should be considered as a differential diagnosis for patients presenting with similar symptoms [8].
• Caudal regression syndrome: This rare condition involves the abnormal development of the lower spine and pelvis. It can present with similar congenital anomalies as Currarino syndrome, making it an important differential diagnosis to consider [2].

Key Features to Consider

When considering a differential diagnosis for Currarino syndrome, the following key features should be taken into account:

• Triad of sacral anomaly, anorectal malformation, and presacral mass: This classic presentation is characteristic of Currarino syndrome. However, it can also be seen in other conditions, such as isolated sacrococcygeal teratoma [5].
• Sacral agenesis or defect: The presence of a sacral anomaly is a hallmark of Currarino syndrome. However, it can also be seen in caudal regression syndrome and other congenital disorders [1][7].

References

[1] by GC Dworschak · 2021 · Cited by 22 — The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral ...

[2] by C Ferreira · 2022 — We emphasize the inclusion of this rare syndrome in the differential diagnosis of fetal neural tube defects and caudal regression syndrome.

[4] Oct 26, 2023 — Differential Diagnoses: Isolated sacrococcygeal teratoma: associated anterior sacral meningocele and scimitar sacrum helps in diagnosis.

[5] by B Kumar · 2016 · Cited by 6 — The classical presentation includes a triad of sacral anomaly, anorectal malformation, and presacral mass.[1]

[7] Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly.

[8] With dominant differentials like Hirschsprung's disease for chronic constipation, physicians and surgeons alike should keep other rarer causes like CS in mind.