Blueberry Muffin Baby: neonatal neuroblastoma with subcutaneous metastases (2023)

Quoted by (32)

  • Neuroblastoma: essential genetic signaling pathways and current treatment options

    2022, European Journal of Pharmacology

    Quote excerpt:

    Blueberry muffin skin lesions, indicative of metastasis and stage IV-S neuroblastoma, appear as blue to purple nodules. The affected skin blanches with a surrounding erythematous rim due to friction and subsequent secretion of catecholamines (Shown and Durfee, 1970). In addition, several liver and bone marrow infiltrations are detected at this stage, which resolve without intervention.

    Neuroblastoma is a highly diverse pediatric tumor originating in the neural crest and is responsible for more than 15% of all adolescent cancer deaths. Clinical signs and symptoms largely depend on the origin and spread of the tumor. Bone, lymph nodes, liver, intracranial and orbital tissues, lungs, and the central nervous system are commonly involved in metastatic neuroblastoma. Neuroblastoma enhances with contrast on computed tomography (CT) scans as a solid, heterogeneous mass that may involve adjacent ipsilateral or contralateral lymph nodes, tissues, and vessels. While magnetic resonance imaging (MR) achieves acceptable diagnostic accuracy for the detection of spinal cord and musculoskeletal metastases. Lorlatinib, a new ALK inhibitor designed to overcome this resistance, is currently being tested in the New Approaches to Neuroblastoma Therapy (NANT) consortium. Aurora kinase inhibitors have been reported to disrupt MYCN, which is particularly attractive given the lack of direct inhibitors targeting this driver in neuroblastoma. Sorafenib, an inhibitor of RAF kinase, and newer PI3K inhibitors are being tested in children with neuroblastoma to block RAS signaling. Despite various therapies, including chemotherapy, radiation therapy, immunotherapy and autologous stem cell transplantation in different risk groups for neuroblastoma, most patients undergo surgical removal of the tumor mass. The aim of this overview is to summarize current findings on neuroblastoma, its pathogenesis, its main genetic signaling pathways and the currently available therapy options for neuroblastoma.

  • Coexisting metastatic neuroblastoma and dermal erythropoiesis in a blueberry muffin infant

    2011, Journal of the American Academy of Dermatology

  • Kutane Metastasen

    2009, Weedon's Pathology of the Skin: Dritte Auflage

  • Blueberry Muffin Baby and Spontaneous Remission of Neonatal Leukemia

    2008, Archives of Pediatrics

    (Video) Neuroblastoma

    IsBlueberry Muffin Babyis a rare skin syndrome observed in the neonatal period resulting in disseminated inflammatory papulonodules. Various causes should be sought, including congenital infections, hemolytic diseases of the newborn, and tumor pathologies. We present the case of a newborn who presented with this syndrome associated with an adrenal mass leading to the initial diagnosis of neuroblastoma. In fact, it was an adrenal localization of acute monoblastic leukemia with meningeal involvement. above allBlueberry Muffin Baby, it seems important to suggest leukemia even when no blasts are found on count and myelogram, as was the case in this patient. This observation is also special because of the occurrence of a spontaneous remission that persists after a year.

    Blueberry Muffin Baby is a rare skin condition in newborn babies. Many causes are known, examples are congenital infections, hemolysis and tumors. We present a newborn with Blueberry Muffin Syndrome and an adrenal mass leading to the diagnosis of neuroblastoma. In reality, it was an acute monoblastic leukemia with adrenal localization and involvement of the liquor cerebrospinalis. Leukemia should always be suspected in such patients, even if white blood cell and bone marrow tests do not show blasts, as in this patient. This observation was also unusual because of the spontaneous remission. After one year of follow-up, the patient is in complete remission.

  • Lila

    2005, EMC – Dermatology-Cosmetology

    Purpura reflects the extravasation of red blood cells into the dermis. The appearance of purpura is an element of diagnostic orientation: petechial or ecchymotic purpura, infiltrated purpura, necrotic purpura. Thrombocytopenic purpura is common and manifests as petechial or ecchymotic purpura. Peripheral thrombocytopenia (normal myelogram) arises from infectious (viral or bacterial), drug, autoimmune, or idiopathic (idiopathic thrombocytopenic purpura) causes. They can be integrated into severe cases of disseminated intravascular coagulation (DIC) or purpura fulminans. Thrombocytopenic purpura of medullary origin due to insufficient production can have various causes, whether constitutional or acquired. Thrombopathic purpuras are less common. Vessel fragility can lead to ecchymotic purpura with minor trauma (Bateman's purpura of aging skin, scurvy, prolonged corticosteroid therapy). Necrotic purpuras, generally associated with inflammatory livedo and skin necrosis, should lead to a search for thrombotic pathologies (platelet-induced thrombosis, heparin intolerance, myeloproliferative syndromes, thrombophilic pathologies, thrombi of infectious origin) or embolism (fat embolism, crystal cholesterol, myxoma ). ). For infiltrating purpura, a skin biopsy should be done to look for vasculitis. Pigmented purpuras are individualized anatomoclinic units with benign but chronic development and undetermined etiology. Some dermatoses can have a purpuric component in their manifestation (urticaria, drug eruption, erysipelas, parapsoriasis). Finally, some paintings are individualized by their topography (papular purpura on gloves and socks) or by their context (Gardner and Diamond syndrome). Childhood forms include individualized entities: neonatal purpura fulminans (due to protein S or protein C deficiency), rheumatoid purpura, acute hemorrhagic edema in infants.

    Purpura results from dermal extravasation of red blood cells. The presentation of the purpura is relevant for diagnostic orientation: petechial purpura, ecchymosis, infiltrated or necrotic purpura. Thrombocytopenia is a common cause of purpura and results in petechial purpura or ecchymosis. Thrombocytopenia with normal bone marrow analysis may be due to infection (viral or bacterial), drug, autoimmune disease, or be idiopathic (idiopathic thrombocytopenic purpura). Thrombocytopenia can be one of the elements of severe disseminated intravascular coagulation or purpura fulminans. The reduced production of platelets can be due to various congenital or acquired diseases of the bone marrow. Abnormal platelet functions are less common. Skin aging, vitamin C deficiency or prolonged corticosteroid therapy can trigger ecchymotic purpura due to the fragility of the vessel walls. Necrotic purpura, generally associated with inflammatory livedo and skin necrosis, may be due to microvascular thrombosis (platelet clots (heparin, myeloproliferative diseases with thrombocytosis), occlusion due to the growth of infectious agents in the vessels, changes in coagulation control (protein deficiency) C or S, antiphospholipids)) or embolization (fat embolization, cholesterol embolism, myxoma). With palpable (infiltrated) and inflammatory pupura, with leukocytoclastic vasculitis, skin biopsy is required. Chronic pigmented purpura represent a group of characteristic anatomoclinic entities with a chronic but benign development. The pathogenesis is unknown. Some dermatoses can be of purpuric origin (urticaria, drug reactions, erysipelas, lichenoid pityriasis). Some purples are distinguished by their topography (sock-and-glove syndrome) or by their context (Gardner-Diamond syndrome). Pediatric diseases include neonatal purpura fulminans (protein S or C deficiency), Henoch-Schönlein purpura and acute hemorrhagic edema in infancy.

  • skin tumors in children

    2000, Children's Hospitals of North America

    Quote excerpt:

    (Video) Neuroblastoma | Dr. Ali Assiri | 2nd Pediatric Surgery Review Course

    Complete or partial surgical resection of the primary lesion and combined modality therapy remain controversial for this reason and because of the possibility of recurrence at the primary site.71,121 Many investigators advocate individualized management based on all available clinical information.68,100,115 A 5-month-old Girl was discovered by his mother that he had bruises on his skin that had come and gone since birth.

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What is a blueberry muffin lesion neuroblastoma? ›

Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis.

What are blueberry muffin lesions in newborn? ›

Blueberry muffin baby syndrome is a rare and non-specific clinical presentation in newborns, characterized by the presence of widespread, maculopapular lesions of blue-red or violaceous colour and cohesive consistency [1].

What causes blueberry muffin baby syndrome? ›

It can occur as a result of rubella or certain other health conditions. Rubella, also called German measles, is an airborne disease that can cause a cough, fever, and rash. “Blueberry muffin rash” is a rash that occurs in babies who contracted rubella in the womb, known as congenital rubella syndrome.

What is a blueberry muffin baby with cytomegalovirus? ›

The term blueberry muffin baby came from the superficial similarity of cutaneous manifestations to a blueberry muffin and was used to describe the cutaneous manifestations of congenital rubella in newborns during the American epidemic of the 1960s.

What is the survivability of neuroblastoma? ›

For children with low-risk neuroblastoma, the 5-year relative survival rate is higher than 95%. For children with intermediate-risk neuroblastoma, the 5-year relative survival rate is between 90% and 95%. For children with high-risk neuroblastoma, the 5-year relative survival rate is around 50%.

What is the most common metastasis of neuroblastoma? ›

Common places for neuroblastoma to metastasize to are cortical bone, bone marrow, and lymph nodes.

What is the prognosis for blueberry muffin syndrome? ›

Prognosis is variable based upon the cause of the characteristic rash. Treatment may include supportive care, anti-viral medication, transfusion, or chemotherapy depending on the underlying cause. It is not common. The term was coined in the 1960s to describe the skin changes in babies with congenital rubella.

Is a blueberry muffin baby CMV or rubella? ›

Blueberry muffin baby is a term used to describe a purplish or bluish-red maculopapular rash present at birth, typically on the face, neck, and trunk. Traditionally, it has been used to describe the cutaneous findings of congenital rubella, but other conditions can produce the same skin findings.

What are Harlequin spots newborn? ›

Usually occurring between two and five days of age, harlequin colour change has been seen as late as three weeks of age. The condition is benign, and the change of colour fades away in 30 seconds to 20 minutes. It may recur when the infant is placed on her or his side.

What is the differential diagnosis of blueberry muffin? ›

The term blueberry muffin baby was initially coined by pediatricians to describe cutaneous manifestations observed in newborns infected with rubella during the American epidemic of the 1960s. These children had generalized hemorrhagic purpuric eruptions that on histopathology showed dermal erythropoiesis.

What are the side effects of blueberry for babies? ›

Allergy concerns

Although rare, some children may have a sensitivity to certain compounds found in blueberries called salicylates, which have been known to cause allergy-like symptoms like hives and nasal congestion in some people.

What can cause blue baby syndrome? ›

Infants under 12 months of age that eat foods high in nitrate or drink water with nitrate in it are more likely to have methemoglobinemia. Methemoglobinemia can be also caused by certain medications (e.g., benzocaine, dapsone) and chemicals (e.g., aniline, naphthalene).

What happens when a baby is born with CMV? ›

CMV is the most common infectious cause of birth defects in the United States. About 1 out of 200 babies is born with congenital CMV. One out of 5 babies with congenital CMV will have symptoms or long-term health problems, such as hearing loss. In the most severe cases, CMV can cause pregnancy loss.

What does CMV do to a baby? ›

Babies born with CMV can have brain, liver, spleen, lung, and growth problems. The most common long-term health problem in babies born with congenital CMV infection is hearing loss, which may be detected soon after birth or may develop later in childhood.

What does CMV do to the body? ›

CMV is related to the herpes virus that causes cold sores and chickenpox. Once you have the virus, it stays in your body for the rest of your life. Your immune system usually controls the virus and most people do not realise they have it.

How long can a child live with neuroblastoma? ›

Neuroblastoma survival rates vary depending on risk group. Children in low and intermediate risk groups survive at least 5 years over 90% of the time. High risk children survive 5 years about half the time. It's likely that survival rates will continue to improve over time as treatment improves.

How aggressive is neuroblastoma? ›

Infants usually develop a form of neuroblastoma that is less aggressive and can mature into a benign tumor. Children over 12 – 18 months usually develop a more aggressive form of neuroblastoma that often invades vital structures and may spread throughout the body.

What is the prognosis for neuroblastoma in infants? ›

Outlook / Prognosis

Younger children with low- or intermediate-risk neuroblastoma have a good prognosis and a 90% to 95% survival rate. Older kids and those with high-risk neuroblastoma live cancer-free around 60% of the time.

What is the 10 year survival for neuroblastoma? ›

The 10-year overall survival increased in patients with stage 1–3 neuroblastoma from 83 to 91%, for stage 4S from 80 to 85%, and for stage 4 aged ≥18 months from 2 to 38%.

What is the prognosis for metastatic neuroblastoma? ›

The 5-year survival rate of low- and medium-risk children has been estimated to reach 75–98% but that of high-risk children is less than 50% [2, 3]. Relapse or progression at the metastatic site is a major cause of NB-related mortality [4].

Is Stage 4 neuroblastoma terminal? ›

Conclusions: More than 50% of children with stage 4 NB may survive.

What does blueberry muffin do? ›

Blueberry Muffin, aka Blueberry Muffins, is an indica-dominant strain produced by Humboldt Seed Company. It is an 80% indica, 20% sativa cross of Razzleberry and Purple Panty Dropper and is often described as having relaxing, arousing, and energizing effects.

Can CMV be transmitted through breast milk? ›

CMV can be transmitted to infants through contact with the mother's genital secretions during delivery or through breast milk. Healthy infants and children who acquire CMV after birth generally have few, if any, symptoms or complications from the infection.

What is the difference between CMV and congenital CMV? ›

While most people infected with CMV have no symptoms (and don't need any treatment), babies born with congenital CMV can have problems related to breathing, hearing, and seeing, as well as mental disabilities.

Where does CMV come from? ›

CMV is found in bodily fluids such as saliva, urine, semen, and others. The virus is easily spread in households and in daycare centers. It can be transmitted to the fetus during pregnancy and to the baby during delivery or in breast milk.

What is bronze baby syndrome? ›

"Bronze baby" syndrome is a rare complication of phototherapy for neonatal jaundice occurring due to modified liver function, particularly cholestasis, of various origins. We report a case which occurred in a premature infant who developed a grey-brown coloration during phototherapy.

Can a harlequin baby survive? ›

The prognosis is very poor. Most affected babies do not survive beyond the first week of life. It has been reported that the survival rate varies from 10 months to 25 years with supportive treatment depending on the severity of the condition(8). Recurrence of this condition in the next pregnancy is 25%(1).

What is a pearl in a baby mouth? ›

Epstein pearls are whitish-yellow cysts. These form on the gums and roof of the mouth in a newborn baby. Milia are a similar type of skin problem in babies.

What are 3 characteristics of a muffin that has been over mixed? ›

Overmixed muffins will have peaked, smooth-textured tops and long, tunnel-shaped air pockets in the interior, and will be tough in texture. It is also essential to spoon the batter gently into the muffin cups without stirring, in order not to reduce the leavening action of the baking powder.

What is blueberry muffin lesion in AML? ›

Blueberry muffin baby is a rare neonatal skin disorder. Causes for the generalized hemorrhagic purpuric eruptions include congenital infections, hemolysis, and tumors. We report a 2.5-month-old female baby with a blueberry muffin appearance, respiratory distress, and decreased activity and appetite.

What age is it safe to give a baby blueberries? ›

Blueberries may be introduced as soon as baby is ready to start solids, which is generally around 6 months of age.

Do blueberries help baby brain development? ›

Blueberries for babies are a rich source of antioxidants and natural sugars. Along with helping regulate your baby's blood pressure, these berries can also help in the cognitive development of babies and make their bones strong. You can start including blueberries in your baby's diet when they begin to have solid food.

What are the health disadvantages of blueberry? ›

Excessive consumption of blueberries can lead to digestive issues, blood sugar imbalances, tooth decay, allergic reactions, and kidney stones. If you're unsure about how many blueberries to consume, it's always a good idea to consult with a healthcare professional.

What are the long term effects of being a blue baby? ›

Cerebral palsy, epilepsy, and nerve damage can impact a child's ability to move independently. They might also suffer muscle spasms throughout their lifetime.

What are two symptoms of blue baby syndrome? ›

Blue baby syndrome, also known as cyanosis, is when your baby's skin has a bluish discoloration, especially when they cry. The discoloration is most obvious in your baby's lips and hands. This condition is caused when there is a shortage of oxygen in your baby's blood.

Do blue babies survive? ›

While cyanosis in the newborn can be an alarming symptom, the majority of these children are able to survive in their early life. Further, many of them are subjected to stressful, staged procedures to repair or palliate their underlying issue – only underscoring the adaptive capabilities of our smallest patients.

Can kissing babies cause CMV? ›

Treatment for CMV in pregnancy

It is important for all pregnant women to follow simple hygiene precautions to reduce their risk of infection: Avoid sharing dummies, cutlery, drinks or food with anyone. Avoid kissing babies, toddlers and small children directly on the mouth.

What is the life expectancy of a child born with CMV? ›

At birth, 90% of babies born with congenital CMV will present as asymptomatic, showing no obvious and visible symptoms of the virus. These children are expected to live healthy lives, typically following standard growth and development patterns.

What virus causes small heads in newborns? ›

Zika and Microcephaly

Microcephaly is a birth defect in which a baby's head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly. Zika virus infection during pregnancy is a cause of microcephaly.

Can a baby survive CMV? ›

Most babies with congenital CMV don't have health problems, but about 1 in 5 babies with congenital CMV can get sick from the virus or have long-term health problems. Some babies born with CMV have signs and symptoms, including: Hearing loss.

Can you have a healthy baby if you have CMV? ›

If a pregnant woman is infected with CMV, she can pass it to her developing baby. This is called congenital CMV, and it can cause birth defects and other health problems.

What kills CMV virus? ›

Antiviral medications are the most common type of treatment. They can slow reproduction of the virus, but can't eliminate it. Researchers are studying new medications and vaccines to treat and prevent CMV .

What does CMV do to the brain? ›

Congenital cytomegalovirus (CMV) infection is a significant cause of brain disorders, such as microcephaly, mental retardation, hearing loss and visual disorders in humans. The type and severity of brain disorder may be dependent on the stage of embryonic development when the congenital infection occurs.

What are the long term effects of congenital CMV? ›

About 40 to 60% of infants born with signs of congenital CMV disease at birth will have long-term health problems, such as: Hearing loss. Vision loss. Intellectual disability.

What organ does cytomegalovirus affect? ›

CMV can infect virtually any organ of the human body. The most common organs include the blood, brain, colon, eye, heart, kidney, liver, lung and stomach. In the case of an organ transplant patient, the symptoms of CMV can be easily confused with rejection.

What does a neuroblastoma lump look like? ›

blueish lumps in the skin and bruising, particularly around the eyes. weakness in the legs and an unsteady walk, with numbness in the lower body, constipation and difficulty peeing. fatigue, loss of energy, pale skin, loss of appetite and weight loss.

What is the hallmark of neuroblastoma? ›

A hallmark of neuroblastoma is cellular heterogeneity. Although the presence of phenotypically diverse cells could be explained by ongoing mu- tagenesis, the cancer stem cell hypothesis has provided an intriguing alterna- tive explanation for neuroblastoma heterogeneity.

Where is the tumor most commonly found in neuroblastoma? ›

Neuroblastoma most commonly arises in and around the adrenal glands, which have similar origins to nerve cells and sit atop the kidneys. However, neuroblastoma can also develop in other areas of the abdomen and in the chest, neck and near the spine, where groups of nerve cells exist.

How common is neuroblastoma in infants? ›

The average age of a child diagnosed with neuroblastoma is about 18 months of age but the condition is occasionally seen in teenagers or even young adults. It is found slightly more often in boys than in girls. In the United States, about 800 new cases of neuroblastoma are diagnosed each year.

How are babies born with neuroblastoma? ›

Neuroblastoma develops from nerve cells in the fetus called neuroblasts. Usually, as a fetus matures and after birth, the neuroblasts develop normally. Sometimes they become cancerous, causing neuroblastoma. Neuroblastoma can be inherited (passed down in families).

What is stage 4 neuroblastoma in infants? ›

Stage 4: the tumor has spread to distant parts of the body such as lymph nodes, bone, bone marrow, skin, liver, and/or other organs. Stage 4S: only applicable in children under 1 year of age. The cancer has potentially spread to lymph nodes, liver, skin, and/or bone marrow but only on one side of the body.

Can a child survive stage 4 neuroblastoma? ›

70% of cases at diagnosis have already spread to other areas of the body which places the cancer in a Stage 4 category. The 5-year survival rate for high-risk Neuroblastoma is 50%. 60% of patients with high-risk Neuroblastoma will relapse. Once in relapse, the survival rate drops to less than 5%.

What is the root cause of neuroblastoma? ›

Most neuroblastomas are the result of gene changes in neuroblasts that happen during the child's development, sometimes even before birth. What causes these acquired gene changes is not known. They might be just be random events that sometimes happen inside cells, without having an outside cause.

What is metastatic neuroblastoma? ›

The metastatic tumor is the same type of cancer as the primary tumor. For example, if neuroblastoma spreads to the liver, the cancer cells in the liver are actually neuroblastoma cells. The disease is metastatic neuroblastoma, not liver cancer.

What is high risk neuroblastoma with metastasis? ›

Patients with high-risk neuroblastoma (HR-NB) are frequently diagnosed with stage 4 disease with widespread metastasis most commonly in bone marrow, bone, lymph nodes and liver. Modern clinical management for HR-NB includes multimodal chemotherapy, surgical resection, radiotherapy and immunotherapy.

Which AML has worst prognosis? ›

Secondary AML has a worse prognosis, as does treatment-related AML arising after chemotherapy for another previous malignancy. Both of these entities are associated with a high rate of unfavorable genetic mutations.

What is the rarest AML? ›

Acute promyelocytic leukemia (APL) is a rare subtype of AML. It's associated with a specific genetic change called the PML/RARA fusion gene. In APL, immature WBCs called promyelocytes begin to gather in the blood and bone marrow.


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