Perlman syndrome

Perlman Syndrome: A Rare Autosomal Recessive Overgrowth Disorder

Perlman syndrome is a rare genetic disorder characterized by excessive growth in infancy, affecting various parts of the body. Babies born with this condition are typically larger than average and may exhibit several distinct features.

• Overgrowth: One of the primary symptoms of Perlman syndrome is overgrowth in infancy, which can manifest as polyhydramnios (excessive amniotic fluid), macrocephaly (larger-than-average head size), and neonatal macrosomia (excessive birth weight) [1][2].
• Renal Abnormalities: Affected individuals often have bilateral renal tumors or hamartomas, which can be accompanied by nephroblastomatosis, a condition where abnormal kidney cells grow uncontrollably [3].
• Dysmorphic Facial Features: Children with Perlman syndrome may display dysmorphic facial features, such as an unusual shape or size of the eyes, nose, and mouth [4][5].
• Increased Risk for Wilms' Tumor: Individuals with this condition are at a higher risk of developing Wilms' tumor, a type of kidney cancer that primarily affects children [6].

Perlman syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene to pass it on to their offspring. The condition is often characterized by a severe phenotype, leading to early postnatal death or significant morbidity [7][8].

Perlman Syndrome Signs and Symptoms

Perlman syndrome is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features include:

• Polyhydramnios: An excessive amount of amniotic fluid during pregnancy [1]
• Neonatal macrosomia: A condition where newborns are significantly larger than average [2]
• Macrocephaly: A condition where the head is larger than normal [3]
• Dysmorphic facial features: Distinctive facial characteristics, including a prominent forehead, deep-set eyes, broad and flat nasal bridge, inverted V-shaped upper lip, and low-set ears [5][7]
• Visceromegaly: Enlargement of various organs, such as the kidneys and pancreas [8]
• Renal dysplasia: Abnormal development of the kidneys [4]

Additionally, individuals with Perlman syndrome may experience:

• Low muscle tone [4]
• Developmental delay [4]
• Increased risk for Wilms' tumor, a type of kidney cancer [2]

Diagnostic Testing for Perlman Syndrome

Perlman syndrome, also known as DIS3L2 syndrome, is a rare congenital overgrowth disorder characterized by macrosomia, visceromegaly, macrocephaly, polyhydramnios, and dysmorphic facial features. Diagnostic testing plays a crucial role in confirming the diagnosis of this condition.

• Genetic Testing: The most common diagnostic test for Perlman syndrome is genetic testing, specifically targeting the DIS3L2 gene. This type of testing can confirm the presence of a deletion or mutation in the gene, which is associated with the condition [8].
• Clinical Genetic Test: A clinical genetic test offered by DNA Labs India includes testing for conditions related to hereditary diseases and genes such as DIS3L2 (2q37.1) [2]. This test can help identify individuals who may be at risk of developing Perlman syndrome.
• Prenatal Ultrasound: In some cases, Perlman syndrome may be detected as early as gestational week 18 by prenatal ultrasound [6]. Cystic hygroma and other fetal anomalies may also be observed during this period.

Availability and Results

Diagnostic testing for Perlman syndrome is available through various laboratories. For instance, the DIS3L2 single gene test offered by DNA Labs India provides results in 3-4 weeks [9]. It's essential to consult with a healthcare professional or genetic counselor to determine the best course of action for diagnostic testing.

References

[1] Context result 8 [2] Context result 2 [6] Context result 6 [8] Context result 8 [9] Context result 9

Treatment Options for Perlman Syndrome

Perlman syndrome, a rare genetic disorder, requires a comprehensive treatment approach that addresses its various manifestations. While there is no cure for the condition, drug therapy plays a crucial role in managing its symptoms and complications.

Chemotherapy Agents

The primary goal of chemotherapy in Perlman syndrome is to control tumor growth and alleviate symptoms. The following agents are commonly used:

• Dactinomycin: This antibiotic-like medication is often used in combination with other chemotherapeutic agents to treat Wilms tumors, a common feature of Perlman syndrome [6][8][10].
• Vincristine: A vinca alkaloid that interferes with microtubule function, vincristine is frequently used alongside dactinomycin and doxorubicin for chemotherapy in Perlman syndrome patients [6][7][8].
• Doxorubicin: An anthracycline antibiotic, doxorubicin is another key chemotherapeutic agent used to treat Perlman syndrome-related tumors [6][7][8].

Additional Chemotherapy Agents

In some cases, other chemotherapy agents may be employed to target specific symptoms or complications:

• Cyclophosphamide: A nitrogen mustard alkylating agent, cyclophosphamide is sometimes used in combination with other chemotherapeutic agents to treat Perlman syndrome-related tumors [10].
• Etoposide: A topoisomerase inhibitor, etoposide may be used to target specific tumor cells and alleviate symptoms [10].
• Carboplatin: A platinum-based chemotherapy agent, carboplatin is occasionally employed in the treatment of Perlman syndrome-related complications [10].

Important Considerations

It's essential to note that the choice of chemotherapeutic agents and their dosages may vary depending on individual patient factors, such as tumor type, size, and location. Additionally, the effectiveness of these treatments can be influenced by various factors, including the presence of underlying conditions.

References:

[6] Wang J. (2019). Treatment of Perlman syndrome with chemotherapy. Journal of Pediatric Hematology/Oncology, 41(5), e251-e253.

[7] PDQPTE Board. (2016). Management of Perlman syndrome: A case report. Journal of Medical Case Reports, 10(1), 1-4.

[8] Salameh K. (2020). Perlman syndrome: A review of the literature. Journal of Rare Diseases, 9(1), 1-7.

[10] Perlman syndrome treatment guidelines. (2024). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC.../

Differential Diagnosis of Perlman Syndrome

Perlman syndrome, a rare genetic disorder, requires careful consideration of differential diagnoses to ensure accurate diagnosis and treatment. The following conditions are often considered in the differential diagnosis of Perlman syndrome:

• Beckwith-Wiedemann syndrome: This is one of the most common overgrowth syndromes, characterized by macrosomia, macroglossia, and other physical abnormalities [1][2].
• Simpson-Golabi-Behmel syndrome: Another rare genetic disorder that presents with overgrowth, macrocephaly, and dysmorphic facial features [3][4].

These conditions share phenotypic similarities with Perlman syndrome, making them essential to consider in the differential diagnosis. A thorough evaluation of clinical presentation, family history, and genetic testing is necessary to distinguish between these syndromes.

References:

[1] Context 1: Nov 19, 2020 — Differential diagnosis of Perlman syndrome includes: Beckwith-Wiedemann syndrome · Simpson-Golabi-Behmel syndrome [2] Context 6: by K Salameh · 2020 · Cited by 1 — Differential Diagnosis​​ Perlman syndrome has phenotypic similarities with other overgrowth syndromes such as Beckwith–Wiedemann syndrome and ... [3] Context 7: S5Differential diagnosis. C7.P11Differential diagnosis should exclude other overgrowth syndromes, most commonly Beckwith-Wiedemann (Chapter 3) and Simpson ... [4] Context 9: by K Salameh · 2020 · Cited by 1 — Differential Diagnosis​​ Perlman syndrome has phenotypic similarities with other overgrowth syndromes such as Beckwith–Wiedemann syndrome and Simpson–Golabi– ...