A 3-year-old female child, born out of a second-degree consanguineous marriage, presented with history of recurrent multiple furunculosis over all the limbs. Cervical, axillary and inguinal lymph nodes were enlarged with moderate hepatosplenomegaly. Generalized hypopigmentation was noted all over the body. The ophthalmologic examination revealed horizontal nystagmus with hypo pigmentation of fundus. Peripheral smear and the bone marrow aspirate showed similar giant granules in the lymphocytes. Also, the neutrophilic and eosinophilic granules were larger in size with phagocytic vacuoles in the monocytes. A skin biopsy showed lack of melanin pigment in the basal layer of epidermis. there was also history of easy bruisability.
what is the probable diagnosis?
This comment has been removed by the author.
ReplyDeleteDiagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
ReplyDeleteIn this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability.
Chediak-Higashi Syndrome
ReplyDeleterare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Surabhi Gaur ( roll no 89)
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder.
ReplyDeleteThe recurrent multiple furunculosis is seen due to defective fusion of phagosomes and lysosome in phagocyte.
In Chediak-Higashi syndrome, abnormalities in melanocytes lead to defective pigmention in skin and eye
Akash Singh
DeleteRoll no 04
The diagnosis is of Chediak-higashi syndrome. It is a rare, inherited immune disorder. Symptoms include nystagmus & frequent infection in lungs, skin. It can also cause photophobia, poor vision, abnormal bruising.
ReplyDeleteShruti jaiswal
ReplyDeleteRoll no 80
Diagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability.
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder.
ReplyDeleteThe recurrent multiple furunculosis is seen due to defective fusion of phagosomes and lysosome in phagocyte.
In Chediak-Higashi syndrome, abnormalities in melanocytes lead to defective pigmention in skin and eye
Diksha (24)
Chediak - higashi syndrome.
ReplyDeleteIt is a rare autosomal.recessive disorder characterized by oculocutaneous albinism , frequent pyogenic infection and presence of large granules in leucocyte.
Diagnosis: presence of large abnormal granules in neutrophils .
Clinical features : silvery hair , photophobia , hepatosplenomagaly.
( Anupriya rollno.14).
Name: HIFZA NAFIS
ReplyDeleteRoll number: 34
Diagnosis: CHEDIAK HIGASHI SYNDROME
Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism)
Symptoms
The symptoms of CHS may be apparent during early infancy. Hair is typically blond or light brown with a silvery tint. Affected children may be abnormally sensitive to light (photosensitivity) because of the reduced pigment in the eyes and skin, and may exhibit rapid, involuntary, eye movements (nystagmus)
Diagnosis
The diagnosis of CHS is usually made by the presence of ‘giant granules’ in microscopic analysis of white blood cells. ‘Giant inclusion bodies’ can also be seen in the cells that develop into white blood cells (leukocyte precursor cells) in the bone marrow.
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder.
ReplyDeleteThe recurrent multiple furunculosis is seen due to defective fusion of phagosomes and lysosome in phagocyte.
In Chediak-Higashi syndrome, abnormalities in melanocytes lead to defective pigmention in skin and eye.
Ankur kumar (10)
ReplyDeleteAreeba Khan
Roll no 16
Diagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability.
This comment has been removed by the author.
ReplyDeleteHarsh Tiwari
ReplyDeleteRoll No 32
The diagnosis is of CHEDIAK HIGASHI SYNDROME. It is an autosomal recessive disease characterized by-
*abnormalities in melanocytes leading to albinism.
*platelets abnormalities leading to bleeding disorders
*defective fusion of phagosomes and lysosomes leading to increased susceptibility to infection
Mitali Mehrotra (roll no.45)
ReplyDeleteThe patient may be suffering from chediak higashi syndrome.
It is an autosomal recessive disorder which is characterized by reduced pigment in skin and eyes.
Clinical features include
Hair is blond or light brown
Affected children are sensitive to light
Hepatosplenomegaly
Diagnosis
Presence of large granule in white blood cells
- The Patient may be suffering from chediak -higashi syndrome.
ReplyDelete- It is a rare autosomal recessive disorder, which arise from a mutation in lysosomal trafficking protein which leads into decrease in phagocytosis.
- The decrease in phagocytosis results in recurrent pyogenic infection, albinism and peripheral neuropathy.
Diagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
ReplyDeleteIn this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability.
Shruti chauhan
Roll no.79
The patient may be suffering from CHEDIAK HIGASHI syndrome.
ReplyDeleteIt is an autosomal recessive disorder of phagocytosis.
In CHEDIAK-HIGASHI syndrome -abnormalities in melanocytes lead to defective pigmentation in skin and eye.
Diagnosis-presence of large granule in white blood cells.
Clinical features-silvery hair, photophobia, hepatosplenomegaly.
This comment has been removed by the author.
ReplyDeleteDiagnosis is CHEDIAK HIGASHI syndrome. Autosomal recessive disorder of phagocytosis.
ReplyDeleteThe decrease in phagocytosis results in recurrent pyogenic infection, albinism and peripheral neuropathy.
Clinical features include
Hair is blond or light brown
Affected children are sensitive to light
Hepatosplenomegaly
Diagnosis
Presence of large granule in white blood cells
ANSHUL KHARE
ROLL NO 13
Diagnosis-CHEDIAK HIGASHI SYNDROME
ReplyDeleteit is an autosomal recessive disease characterized by-
1.defective fusion of phagosomes and lysosomes in phagocytes leading to increased susceptibility to severe pyrogenic infection
2.abnormalities in melanocytes leading to albinism
3.platelet abnormalities causing platelets disorders.
4.phagocytes from patients with immune defect contains giant granules but do not have the ability to kill bacteria.
Chediak-Higashi Syndrome
ReplyDeleterare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Mayank-44
Chediak-Higashi Syndrome
ReplyDeleterare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Vaishnavi sharma
94
The diagnosis is Chediak-Higashi syndrome .
ReplyDeleteChediak-Higashi Syndrome
rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Chediak higashi syndrome is genetic disorder characterized by decreased pigmentation of skin, eyes and hair, nystagmus and giant peroxidase-positive inclusions in cytoplasm of leukocytes due to which giant granules in lymphocytes were seen on
ReplyDeletebone marrow aspiration. Also leukocytes possesses diminished phagocytic activity which results in frequent infections .
Princy bhati
Rollno-62
Diagnosis-chediak higashi syndrome
ReplyDelete. It is a rare autosomal recessive disorder,which arise from a mutation in lysosomal trafficking protein which leads into decrease in phagocytosis
. The decrease in phagocytosis results in recurrent pyogenic infection,albinism and peripheral neuropathy
Anand kumar
Roll n.07
This comment has been removed by the author.
ReplyDeleteThe diagnosis is Chediak-Higashi syndrome .
ReplyDeleteChediak-Higashi Syndrome
rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Pawan jaiswar
Roll-58
Chediak higashi syndrome is genetic disorder characterized by decreased pigmentation of skin, eyes and hair, nystagmus and giant peroxidase-positive inclusions in cytoplasm of leukocytes due to which giant granules in lymphocytes were seen on
ReplyDeletebone marrow aspiration. Also leukocytes possesses diminished phagocytic activity which results in frequent infections .
Siddharth bhargav
Roll no 83
Chediak-Higashi Syndrome
ReplyDeleterare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy
Mohd Maaz
49
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder. This disorder arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
ReplyDeleteDiagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
ReplyDeleteIn this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability
Mohd Shuaib-52
Chediak higashi syndrome is genetic disorder characterized by decreased pigmentation of skin, eyes and hair, nystagmus and giant peroxidase-positive inclusions in cytoplasm of leukocytes due to which giant granules in lymphocytes were seen on
ReplyDeletebone marrow aspiration. Also leukocytes possesses diminished phagocytic activity which results in frequent infections .
Abu Fahad (03)Chediak higashi syndrome is genetic disorder characterized by decreased pigmentation of skin, eyes and hair, nystagmus and giant peroxidase-positive inclusions in cytoplasm of leukocytes due to which giant granules in lymphocytes were seen on
ReplyDeletebone marrow aspiration. Also leukocytes possesses diminished phagocytic activity which results in frequent infections
Aryaman singh
ReplyDeleteRoll no 18
Diagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability
ReplyDeleteSAMRIDDHi GUPTA
ROLL NO. 71
Diagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisbility.
Diagnosis-CHEDIAK HIGASHI SYNDROME it is an autosomal recessive disease characterized by
ReplyDelete1.defective fusion of phagosomes and lysosomes in phagocytes leading to increased susceptibility to severe pyrogenic infection 2.abnormalities in melanocytes leading to albinism
3.platelet abnormalities causing platelets disorders.
4.phagocytes from patients with immune defect contains giant granules but do not have the ability to kill bacteria.
Nitin Gupta
Roll No-56
Name -preeti,roll-61
ReplyDeleteDue to consanguineous marriage parrent mutated gene formation of muted LYST protein form .
Normal LYST cause lysosomal trafficking ,
So lysosome normaly attached to phagosome vesicles ,but mutated is not possible to perform this.
Lysosome is inlarge abnormaly and impaired in function of immune system so causes many fungal, viral
Bacterial (Staphylococcus aureus -which cause multiple frunculosis is form on limb ,cervical , axillary region ) infection cause inlargment of inguinal lymph node and spleenomegaly .
Oculocutaneous albinism causee due to giant melanosome and it unable to contribute melanin in skin hair and eye called hypopigmentation , oculocutaneous albinism also cause of involuntary movement of eye called Nystagmus.Due to pathogen causes infection so activate immune system increase more number of eosinophils and neutrophils lymphocytes in bone marrow aspirate also there is large lysosome .
Name -preeti,roll-61
ReplyDeleteDue to consanguineous marriage parrent mutated gene formation of muted LYST protein form .
Normal LYST cause lysosomal trafficking ,
So lysosome normaly attached to phagosome vesicles ,but mutated is not possible to perform this.
Lysosome is inlarge abnormaly and impaired in function of immune system so causes many fungal, viral
Bacterial (Staphylococcus aureus -which cause multiple frunculosis is form on limb ,cervical , axillary region ) infection cause inlargment of inguinal lymph node and spleenomegaly .
Oculocutaneous albinism causee due to giant melanosome and it unable to contribute melanin in skin hair and eye called hypopigmentation , oculocutaneous albinism also cause of involuntary movement of eye called Nystagmus.Due to pathogen causes infection so activate immune system increase more number of eosinophils and neutrophils lymphocytes in bone marrow aspirate also there is large lysosome .
Diagnosis: CHEDIAK HIGASHI SYNDROME
ReplyDeleteChediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism)
Symptoms
The symptoms of CHS may be apparent during early infancy. Hair is typically blond or light brown with a silvery tint. Affected children may be abnormally sensitive to light (photosensitivity) because of the reduced pigment in the eyes and skin, and may exhibit rapid, involuntary, eye movements (nystagmus)
Diagnosis
The diagnosis of CHS is usually made by the presence of ‘giant granules’ in microscopic analysis of white blood cells. ‘Giant inclusion bodies’ can also be seen in the cells that develop into white blood cells (leukocyte precursor cells) in the bone marrow.
ANUBHAV AGRAHARI
ReplyDeleteROLL NO 15
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder.
The recurrent multiple furunculosis is seen due to defective fusion of phagosomes and lysosome in phagocyte.
In Chediak-Higashi syndrome, abnormalities in melanocytes lead to defective pigmention in skin and eye
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder.
ReplyDeleteThe recurrent multiple furunculosis is seen due to defective fusion of phagosomes and lysosome in phagocyte.
In Chediak-Higashi syndrome, abnormalities in melanocytes lead to defective pigmention in skin and eye.
Sakshi
ReplyDeleteRoll no.68
Probable diagnosis- chediak higashi syndrome.
It's a autosomal recessive disorder.
Features are
1. Melanocytes abnormality-->hypopigmentation
2. Defective fusion of phagosome and lysosome during phagocytosis--> recurrent infections
3. Platelet abnormality--> bleeding disorders and easy bruisability.
SAMRIDDHi GUPTA
ReplyDeleteROLL NO. 71
Diagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability
Amit Maddheshiya
ReplyDeleteRoll no. 06
Probable diagnosis is chediak higashi syndrome.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
SHAILENDRA KUMAR MADDESHIYA
ReplyDeleteROLL NO..75
The patient may be suffering from Chediak-Higashi syndrome. It is an autosomal recessive disorder.
This disorder arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
This is cause abnormalities in melanocytes lead to defective pigmention in skin and eye.
Vidya Sagar roll no 95
ReplyDeleteDiagnosis may be Chediak higashi syndrome. it is an autosomal recessive disorder of phagocytosis.
In this disorder abnormalities in melanocytes leading to lack of skin and eye pigment.
Defective fusion of phagosomes and lysosomes in phagocytes leads to recurrent infection as patient presented with history of recurrent multiple furunculosis over all the limbs.
Platelets abnormalities and bleeding disorders are very common as patient show history of easy bruisability.
Diagnosis-CHEDIAK HIGASHI SYNDROME it is an autosomal recessive disease characterized by 1.defective fusion of phagosomes and lysosomes in phagocytes leading to increased susceptibility to severe pyrogenic infection 2.abnormalities in melanocytes leading to albinism
ReplyDelete3.platelet abnormalities causing platelets disorders.
4.phagocytes from patients with immune defect contains giant granules but do not have the ability to kill bacteria.
Nitin Gupta
Roll No-56