مرض وراثى نادر.اريد المساعدة فى التشخيص

[محمد الموجى]

ولد لى ولدان واحد تلو الأخر بمرض وراثى نادر واحترت فى التشخيص بالرغم من وجود بنتان بصحة سليمة قبل الولدان الذكران. اجو المساعدة.
تقارير الولدان محمد محمد الموجى ثم ابراهيم محمد الموجى (متوفى حديثا)

Mohammed El-Mogy



I had the pleasure of seeing Mohammed for the first time in December 2007, then a 8months (DOB: 27-03-2007) old infant, 3rd in order of 2nd cousin parents with older 7.5 and 4.5 healthy female sibs. There is a history of abortion once at around 8 weeks of gestation (unknown cause).

He was born vaginally, as full term newborn in Oman with good APGAR at 1 and 5 minutes. His antenatal and natal periods were uneventful except for gestational diabetes (did not need therapy was controlled by diet) and recurrent maternal vaginal infection for which she received treatment. His birth weight was 3.085 Kg, head circumference 33.5cm (both>10th percentile) and length 52cm,



On the third day of his life, his suckling became poor and so his activity and his consciousness then became disturbed and the mother reported that he had smelly umbilicus. Later, he became jaundiced and his breathing was labored and admitted in the NICU.

The report of the NICU showed that his CRP on admission was 16, blood culture negative and CSF normal though his CT brain showed some edema and subtle low dense regions on the left side ??HIE. During admission, there was gradual deterioration in his level of consciousness that he was mechanically ventilated.

Then a CSF for HSV was negative. He was managed with frusemide, mannitol, Acyclovir and Carnitine IV, and a metabolic profile including:,

¨ Tandem mass spectrometry (30/3/2007) was normal

¨ ABG: respiratory acidosis

¨ Serum ammonia was 168(Day 4), and fell gradually to 48 umol/L, (Day 5).

¨ Serum lactate levels were 1.1 (Day 4), 6.2 (Day 5) and 4.2 umol/L(Day 5).

¨ Urinary ketones were negative.

¨ CK was normal.

¨ Tested as well for Hemoglobin electropheresis, G6PD deficiency, reducing substance in urine, thyroid profile, electrolytes, CSF glucose were normal.

¨ TORCH profile: Only positive for IgG.

¨ Urine organic acids, Galactose-1-P uridyl transferase and LCFA all came back normal.

¨ MRI brain: Generalized restriction of diffusion involving the brain stem, the periventricular white matter and whole cortex especially the posterior temporal, occipiatal and parietal lobes. Also, basal ganglia and internal capsules were involved, consistent with hypoglycemic encephalopathy???



On day 8, he developed jerky movements?? Myoclonus and was given clonazepam He started to gradually improve after 9 days in coma, extubated on Day22. He was discharged (Day 38) with normal tone and reflexes, good cry, good spontaneous movements, good suckling and swallowing though not focusing at all (Occiptofrontal circumference 34.7 cm and weighing only 3.66Kg).



15 days After his discharge, he developed generalized clonic seizures and readmitted. Phenytoin, Valproate and phenobarbitone were all tried and finally discharged on Valproate and Phenobarbitone. Later, valproate was withdrawn and Vigabatrine given with deterioration of consciousness that it was stopped and he was maintained on Phenobarbitone (4mg/Kg/D) and Clonazepam (0.06mg/Kg/D) when I saw him.



In Egypt , the following was done:

Serial ammonia levels: (in June 2007, it was 72.6 umol/L, fell to normal values in November 2007).

Lactate was repeated in June 2007 and was marginally increased (14.3mg/dl)

Plasma and urine aminogram showed increase in glutamic and glycine levels ??? suggesting the possibility of Nonketotic hyperglycinemia.

Auditory Brain Stem Response: normal.

Karyotyping: Normal .

EEG done in November 2007 showed diffuse cerebral encephalopathy with bitemporal epileptic activity.



[The previous data were collected from the history given by the parents, extracted from his pervious reports, and investigations]



When I saw him in December 2007, his occipito-frontal circumference was 40 cm, weight 9Kg, started to partially support his neck, could barely reach for objects (already on physiotherapy) but could not recognize his mother, no following of visual or auditary stimuli only fixing in midline.



On examination, there was generalized hypotonia but gradually assuming the pyramidal distribution and his deep tendon reflexes were brisk.



It seems from the history that the aetiologic possibility may include neonatal infection or a metabolic cause (not thoroughly investigated for the mitochondrial diseases, the non ketotic hyperglycinemia and other causes including the purine and pyramidine metabolism defects, the neurotransmitters,..). I discussed with the parents that we might need CSF analysis to definitely exclude the possibility but they decided against it at least for the time being.



Because the child had no more myoclonic seizure and he was rather sleepy on phenobarbitone, the plan was to withdraw slowly the drug and replace it was carbamazepine which resulted in improvement in level of consciousness. During the follow up, the child developed occasionally complex partial seizures so the dose of carbamazepine was increased to 20mg/Kg/Day and continuing withdrawal of phenobarbitone and may later consider Clonazepam withdrawal.



He was started on extensive course of physiotherapy and visual stimulation programme and L-carnitine.



Unfortunately because I was out of the country for one year, I did not get to see him till the March 24th 2009, then a 2 years old child. It seems that he was gaining mile stones though very slowly so he started to sit with maximum support though his neck support was not satisfactory. He could grasp objects when put in his hand but no transfer between hands and no reaching for objects. It seems that he can just recognize his mother and father but not other family members or his name. There was no history of extrapyramidal movements.



He was still having seizures, in the form of generalized tonic seizures lasting for less than a minute and recurring on average 3/week but no more myoclonic jerks.



He was still on Carbamazepine 25 mg/Kg/Day (8 hourly), Clonazepam 0.1 mg/Kg/Day but there was marked increase in secretions and incidence of chest infection with the increase in Clonazepam.



On examination, his occipitofrontal circumference was 41cm- well below 3rd percentile (same as one year before), Length 80 cm and weight 9.3Kg. He was occasionally fixing to visual stimuli but not following at all and he was continuously moving his head from side to side.

Pupils were rounded, regular and reactive to light though slightly dilated. There was no nystagmus. Fundi examination was difficult because of continuous movements but he had formal ophthalmologic examination at 3 months.

There was no facial asymmetry or jaw deviation and tongue was central in position with no fasciculations and positive Gag reflex.

There was evident axial hypotonia with increased appendicular tone and brisk deep tendon reflexes (+3). He was moving his limbs freely (at least against gravity).

Right testes could not be felt in the scrotum. Chest, cardiovascular and abdominal examination showed no abnormality and there was no neurocutaneous stigmata.



The overall impression of the parents is that he was gaining mile stones though very slowly and no loss of previously acquired one.



The plan at that point regarding seizures was to increase dose of carbamazepine to 30 mg/Kg/Day and to consider weaning Clonazepam. The plan regarding the underlying aetiology will need to be discussed in view of the condition of his younger brother Ibrahim.

A repeat EEG done in April 2009 showed rather continuous biorhythmic epileptogenic activity more on the right side.

Seizures were still very frequent recurring every half hour mainly in the form of adversive seizure.

Levetiracetam was added with somewhat initial improvement in seizure frequency.It was maximized to 60 mg/Kg/D but again started to have focal adversive seizures.

Trial of clonazepam withdrawal was associated with increased seizure frequency and so failed and he was maintained on 0.17mg/kg/D- further increase was associated with sleepiness.

Further investigations:

Urate in Urine 9.1 mg\day reference range 250-- 750

3.5mg in 1 ml

But:

S-Sulphocysteine


<10


0.5

Xanthine


<40


17.8







































































Ibrahim El Mogy(dead recently)



I saw Ibrahim for the first time in March 24th, 2009, then 10 months and one week old infant, the 4th in order of distant cousin parents with history of abortion once. He was born vaginally, on May 18th, 2008, as a full term newborn with good APGAR at 1 and 5 minutes. His antenatal and natal periods were uneventful apart from maternal gestational diabetes for which the mother was controlled just by diet modification. His birth weight was 3.200 Kg , head circumference 34cm (both >10th percentile) and length 48cm.

Though he was sucking well immediately after birth, it was noted that he was slightly lethargic about 10 hours later and was found to be hypoglycemic, once treated his blood glucose stabilized and he was sent home.



However, the parents were not satisfied with his condition, his suckling was not adequate and he was seen to be lethargic and not very alert so they sought medical advice and he was admitted on the third day of his life under the neonatal service in Mansoura University Children Hospital , Egypt . His random blood sugar was 36 mg/dl & received IV dextrose 10% then became jaundiced and his breathing was labored and admitted in the NICU. According to their report, his initial assessment showed stable vital data but the patient was lethargic and his activity was very poor and his deep tendon reflexes depressed. Also, it seemed that he had myoclonic movments with once generalized tonic clonic seizure by one week of life which didn't recur and he was noted to have persistant hiccough for few days.

Neonatal Sepsis was suspected and he was strted on intravenaus antibiotics although he had a CRP of 12 mg/dl (29 mg/dl 3 days later and negative after 5 days), negative blood culture and normal CSF examination, he was maintained on antibiotics treatment for one week. CBC revealed hemoglobin of 20 gm/dl, WBCs of 10.9 X 103 /uL and Platlets of 274 X 103 /uL. Total serum Bilirubin was11mg/dl & Direct was 4 mg/dl. His CT brain showed edema, picture suggesting HIE.





During admission he had gradual deterioration in his level of consciousness that require mechanical ventilation around the 5th day of his life. He was compleatly dependent on ventilation for one week. He was maintained on phenobarbitone intravenous for one week then continued on oral form for another week then discontinued and he was extubated on Day 17. He was discharged on (Day 23) with normal tone and reflexes, good cry, good spontaneous movements, good suckling and swallowing though not fixing to visual stimuli and a head circumference of 35cm and weight of 3.690Kg.

According to the parents, for the first month after discharge, he was gaining mile stones. So that by the age of one and a half month, he had a very good cry, very good suckling power, was kicking and started to roll over and could raise his head when prone. The only noted problem is that he had a fixed upwards gaze.

At about the age of one and a half months, he started to have weak suckling that he was moderately dehydrate and had to have IV fluids inserted then he started to loose all his previously acquired mile stones of development and even could no more produce any sounds.

At about the age of 3 months, he started to have seizures, which according to the parents’ description, is suggestive of extensor spasms. The attacks used to come in clusters (5 in each cluster) and recurring about 3-4/day. Sometimes the attacks were so severe that it was associated with vomiting. (EEG done then showed intermittent paroxysms of sharp- slow waves with immature background for age). He was started on phenobarbitone with no effect, tried on Valproate that was associated with deterioration in alertness was stopped 2 weeks later. Clonazepam was tried but because was associated with further deterioration of alertness and weaker suckling power, it was later reduced. Then he was tried on Levetiracetam and later Topiramate added with some improvement with each drug but not yet fully controlled. The seizure frequency now decreased to once daily cluster (3-4 spasms each) and its severity decreased (no more associated with vomiting). Last EEG done at the age of 9 months showed left sided parietooccipital sharp waves.



The following investigations done for Ibrahim :

ABG: respiratory acidosis that improved rapidly when mechanically ventilated and repeated blood gases were always within normal.

Serum ammonia was 133 mg/dl (normal up to 80mg/dl)

Urinary ketones were negative.

Plasma and urine aminogram ,within normal limits

Profile for fatty acid oxidation defect: normal

Thin Layer Chromatography: normal

Karyotyping: Normal .

Abdominal US was free

CT brain 28/5/2008 showed picture of HIE

MRI brain done at the age at 3 months age showed only subvolumic changes in the brain parenchyma but repetition was advised because it was of poor quality.



When I saw him recently (March 24th 2009), the patient was seen to be lethargic, not at all alert or attentive to any stimuli.

His weight was 7.7 Kg, occipitofrontal circumference 42 cm (below 3rd centile).

Though his pupils were rounded, regular and reactive, he was not fixing or following any visual stimuli. There was no jaw deviation or facial asymmetry and tongue was central in position with no faciculations. There was high arched palate.

There was generalized hypotonia more in the trunkal than appendicular. However tone was better in the upper limbs than the lower limbs. Deep tendon reflexes were within normal (+2).

Chest examination showed deformity (pectus carinatum). Abdominal examination was free. Testes were down and there were no neurocutanewous stigamata.

He was already on Levetiracetam 67mg/Kg/Day, Topiramate at 3mg/Kg/Day and Clonazepam at 0.06mg/Kg/Day.



Repeat EEG in April 2009 showed a picture of burst suppression and clinically attacks of flexor spasms started to evolve to clear clusters. Trial of maximizing topiramate to 7 mg/K/Day did not show promising results. Thus vigabatrin was added with clear improvement and clonazepam and later Topiramate were weaned off with no deleterious effect.

Currently he is on Vigabatrin 125mg/kg/D (since mid September) and Levetiracetam at 60mg/Kg/D. Accroding to his mother, his alertnedd and interaction is better but still having attacks a day mainaly in the form of vomiting followed by generalized tonic seizres.



Regarding the underlying aetiology, in view of the distant cousin marriage, the occurrence of similar condition in both sibs, we will have to consider neurometabolic disorder. Though only male sibs were affected, we cannot exclude the possibility of AR disorders.

The following investigations were added

Blood gases showed normal bicarbonate level.

Lactate was done during the period of worsening and was 28.5 but repeated later and was 14.2 mg\dl Ref. Range < 20

Urate in Urine 23 mg\day reference range 250-- 750

Urine Volume:180ml \day



S-Sulphocysteine


<10


0.6

Xanthine


<40


26.4



At the current state, we are still considering mitochondrial disorders, nonketotic hyperglycinemia, glucosylation disorders defect and Glucose transporters defect. Unfortunately, these investigations are not available in Egypt



I will gladly answer any inquiry or share opinions as regards the present case.

Best regards,

Dr. Hoda Tomoum

Assistant Professor of Pediatrics,

and Pediatric Neurology,

Ain Shams University

Tel.: + 201 014 01947

E-mail: (تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى) .



----- Forwarded Message ----
From: Mona Elmogy <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
To: (تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)
Sent: Sat, January 16, 2010 1:34:50 PM
Subject:


these are some of the e-mails from Dr Chris Hendrekz in Bermingham

If you can let me know the urate results that will also help and we may need to do less test if one or both are abnormal.

Urine Sulphite is done with a stick and if they don’t have them it will be best to leave it as the sulphacystein will do the same. I know my laboratory does them and I suspect most of the laboratories in Europe should do them. Heidelberg in Germany does them and Turkey may do them as well but I don’t know anybody in those hospitals.

Neurotransmitters we need dopamine and serotonin



Glycine unfortunately may be high whenever children have many seizures.


Chris Hendriksz

Consultant in Clinical Inherited Metabolic Disorders

Birmingham Children's Hospital

Steelhouse lane

Birmingham-United Kingdom

B4 6NH

Tel +44 (0)1213339907/8

Fax:+44(0)1213339909

Mailto:(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)

Ideally you need sulphacysteine but – I would be relatively sure this is Molybdenum co factor deficiency having seen the MRI scans and all the information you have supplied. Unfortunately there is no treatment for this condition. I have copied some details below and sadly most children die young. I am really sorry I can not give you good news if this is confirmed. There may be some trials I n the future but not at present.

o



Dear sir,
I found
Sulphocysteine & Xanthine
In Pharmagene Lab which will send it abroad is it the same one you need ?
I've got the result of Urine Urate and it is :

**For Ebrahim 1Y
Urate in Urine 23 mg\day reference range 250-- 750
Urine Volume:180ml \day

**For Muhammad 2Y 3 M
Urate in Urine 12 mg\day reference range 250-- 750
Urine Volume:120ml \day

The result is too far from the reference so do you recommend to re-do the test
Thank you for your time
Mona Elmogy



----- Forwarded Message ----
From: Hendriksz Chris (RQ3) BCH <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
To: Mona Elmogy <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
Sent: Friday, July 10, 2009 1:34:21 PM
Subject: RE:

Yes in blood as well because it was very low in urine.



Chris Hendriksz

Consultant in Clinical Inherited Metabolic Disorders

Birmingham Children's Hospital NHS Foundation Trust

Steelhouse lane

Birmingham

B4 6NH

Tel: +44(0)121 3339907/8

Fax:+44(0)121 3339909

From: Mona Elmogy [mailto:(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)]
Sent: 10 July 2009 11:28
To: Hendriksz Chris (RQ3) BCH
Subject: Re:



you ask for urate in urine only I'll do urate in blood if you need it we did sulphocysteine xanthine analysis for the urine of both Mohamed and Ibrahim. but both were clearly normal for sulphocysteine and xanthine.so should i do urate in blood
Mona Elmogy



From: Hendriksz Chris (RQ3) BCH <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
To: Mona Elmogy <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
Sent: Friday, July 10, 2009 1:17:49 PM
Subject: RE:

It is a possibility like many other conditions and sometimes when you see the children it becomes clearer. If the neurologist think it looks like CDG they should do tests as suggested below.

These children usually have cerebellar atrophy and your children didn’t on the last scans but may still develop it.

The classical condition is unusual fat pads, eye problems, cerebellar atrophy and inverted nipples but there are many sub types and only 1 has a treatment. That one is called CDG type 1B but they don’t have seizures and brain scan is usually normal.

Did you get he results of level of urate in blood? I know it was very low in urine.



Chris Hendriksz

Consultant in Clinical Inherited Metabolic Disorders

Birmingham Children's Hospital NHS Foundation Trust

Steelhouse lane

Birmingham

B4 6NH

Tel: +44(0)121 3339907/8

Fax:+44(0)121 3339909

From: Mona Elmogy [mailto:(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)]
Sent: 10 July 2009 11:12
To: Hendriksz Chris (RQ3) BCH
Subject: Re:



Dear sir,
Do you think it could be this and if so what exactly should i do if there is a clinical investigations mention it and the neurologist will examine them or what the investigation needed to start searching for it
Thank you for your time and effort
Mona Elmogy



From: Hendriksz Chris (RQ3) BCH <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
To: Mona Elmogy <(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)>
Sent: Friday, July 10, 2009 1:04:42 PM
Subject: RE:

The best test to do for CDG disease is first to do Transferrin iso- electrical focusing and Anti Thrombin III. They may not be always positive the first time around and you may need a skin biopsy take make diagnosis.

That was why I was suggesting seeing them as these children usually have abnormal fat on their bodies and problems with eyes.



Chris Hendriksz

Consultant in Clinical Inherited Metabolic Disorders

Birmingham Children's Hospital NHS Foundation Trust

Steelhouse lane

Birmingham

B4 6NH

Tel: +44(0)121 3339907/8

Fax:+44(0)121 3339909

From: Mona Elmogy [mailto:(تم حذف الإيميل لأن عرضه مخالف لشروط المنتدى)]
Sent: 10 July 2009 10:45
To: Hendriksz Chris (RQ3) BCH
Subject:



Dear sir ,
the neurology sent me a suggestion


I wanted you to ask Dr Chris about the possibility of Congenital disorder of Glycosylation??? Just an idea???



How about repeating aminogram in the CSF????
Mona ELmogy



Sir what we need is to find a diagnosis and we cant reach it here as we need a high investigation possibility and we heard about King Fisal hospital and we want to know if there is

[Abdulrahman Alswaid]

السلام عليكم

اعتقد ان ما نقلت من معلومات كانت دقيقة و مفيد و لعلها توصل للتشخيص


مازال هناك في نظري اشتباه في 4 انواع من الامراض

الاول

MOLYBDENUM COFACTOR DEFICIENCY

الثاني

glucose transport defects



الثالث
NON-KETOTIC HYPERGLYCINEMIA

الرابع
لست متاكد منه لان الفحوصات لك تاكده لي
هو خلل في مادة اللكتيت
لكن اعتقد انه ليس من الاحتمالات لانه حسب التقرير ذكر انه ليس هناك حموضة بالدم
مع ان هناك تكرار ارتفاع لمادة اللكتيت و التي من الممكن ان ترتفع نتيجة التشنجات نفسها

اما احتما glycosylation defects في نظري ضعيف وان كان دائما وارد في مثل هذه الحالات

اذا تم التاكد ان هذه ليست السبب فيبقى الموضوع الكبير و هو مشاكل الميتوكندريا mitochondrial disorder
اقترح ان تعمل بقية التحاليل للتوصل للتشخيص الدقيق للمرض


قياس مستوى حمض اليوريك في الدم uric acid
و اعادة تحاليل البول في عينة فريش ( طازجة ترسل للمختبر مباشرة)

هذه تحاليل لم تعمل لعلها تعمل لكي تكتمل النواقص

هو عمل قياس لمستوى
1- قسام مستوى الجليسين (Glycine)في الدم و السائل السحائي في نفس الوقت
2- قياس مستوى السكر في الدم و في السائل السحائي في نفس الوقت
3- transferring isoelectric focusing

الاول لكي يتم تشخيص مرض يسبب تشنجات ناتج عن ارتفاع الحمض الاميني المسمى الجليسين

الثاني لتشخيص خلل انتقال السكر بين الدم و المخ
الثالث لتشخيص الخلل في الجليكوسيليشن و هو الذي لم ارجحه كثيرا
استمروا بالتواصل مع طبيب الوراثة في بريطانيا و باذن الله يتم التوصل للتشخيص
مع طبيبكم المعالج باذن الله و لعلك توافينا باخر الاخبار


اسأل الله العظيم رب العرش العظيم ان يشفي لك ابنك و يتقبل اخوه شفيعا لكم
و ان يرزقكم الذرية الصالحة و يحفظها من كل سوء

الله يطمئن قلوبكم

[محمد الموجى]

الفاضل الدكتور
شكرا علي الرد لقد قمت قعلا بعمل تحليل amino acids in blood and CSF and glucose transport in blood and CSF in the same time I'll get the results next week also arrange to do the neurotransmitters in CSF in Switzerland I 'll send the samples next week this investigations are arranged and directed by Dr Laila Abdulmutaleb the consultant of metabolic disorders in Abou Alreesh hospital ( Children University Hospital , Cairo) the Dr arranging to do a mutation screen for all the family next month
according to MOLYBDENUM COFACTOR DEFICIENCY I already did sulphocysteine and xanthine and both come normal also we did urate in blood and it comes normal the only test which comes abnormal is urin urate
Do you have any suggestions?
thank you for your time

[Abdulrahman Alswaid]

شكرا لك

ليس هناك اقتراحات اضافية
بنتظار نتائج التحاليل التي ارسلت

[محمد الموجى]

بسم الله الرحمن الرحيم
هذة نتائج تحاليل csf
صور النتائج على ب دى اف

[محمد الموجى]

https://download.yousendit.com/bFFPQmtaY3k4aVB2Wmc9PQ

https://download.yousendit.com/bFFPQmtRTXZBNkUwTVE9PQ

http://rcpt.yousendit.com/867756023/...4b134c0e8ba536

[Abdulrahman Alswaid]

لم استطع ان افتح الملف الاخير
لا اعرف ماذا يحتوي

بنسبة للتحليل
فان الحمض الاميني المعروف بالجليسين مرتفع بعض الشيء ( هناك مرض مشهور يسبب هذا النوع سبق ان تحدثنا عنه)
اقترح ان ترسلوا النتائج للمختص البريطاني الذي كانت الدكتوره تراسلة سابقا

[farida]

السلام عليكم
أستاذ \ محمد الموجى انا من مصر وكنت عايزة اسال حضرتك سوال
المعمل اللى حضرتك بتتعامل معها هو اللى يرسل التحاليل الى الخارج لو احتاج الامر ام دكتورة الوراثة
ومين فى المعمل اللى ترشحه انى اتعامل معها شكر ا

[فيروز]

الله يطمئنكم ويشفى مرضانا جميعا

[محمد الموجى]

المشاركة الأصلية كتبت بواسطة farida

السلام عليكم
أستاذ \ محمد الموجى انا من مصر وكنت عايزة اسال حضرتك سوال
المعمل اللى حضرتك بتتعامل معها هو اللى يرسل التحاليل الى الخارج لو احتاج الامر ام دكتورة الوراثة
ومين فى المعمل اللى ترشحه انى اتعامل معها شكر ا

اسف علي التاخير اسم المعمل مركز الوراثة الطبي / الدكتور عزت السبكي سوف يساعدك في ارسال اي عينة 48 ش عبد المنعم رياض من البطل احمد عبد العزيز المهندسين او 27 أ ش بغداد ميدان الكوربة مصر الجديدة
او معمل فارماجين الدكتور محمد راشد في الدقي شارع 5شارع عمان الدقي برج الاطباء
تحت امرك في اي استفسار
اسال الله العظيم رب العرش العظيم ان يشفي مريضاكم

[Abdulrahman Alswaid]

افضل مختبر هو المختبر الذي ذكرته

او معمل فارماجين الدكتور محمد راشد في الدقي شارع 5شارع عمان الدقي برج الاطباء

الدكتور محمد مشهور جدا و كان يعمل لدينا في السعودية في مستشفى الملك فيصل التخصصي
و لقد خسرناه برجوعه لمصر ههه

[همسات امراه]

[align=center]الله يشفيلك طفلك ويطمن قلبك عليه يارب العالمين ويرزقك الذريه الصالحه ..[/align]

[محمد الموجى]

الدكتور محمد راشد واحد من الاطباء المخلصين المجتهدين الذين يساعدون اكثر مما يستفيدون انا اعرفه شخصيا من خلال تعاملي مع معمله و ارشاده لنا في مشوارنا الطويل

[farida]

شكرا جدا على الرد
انا دكتور النساء اللى بتابع معه كلم الدكتور عزت السبكى وساله على موضوع تحليل الطفرة قالوا مكلفة
وحسيت انه مش مهتم علشان كدة لم اذهب اليه بس الايام ديه ان شاء الله هروحه

[محمد الموجى]

صحيح هو تحليل مكلف جدا لو انت وصلت للتشخيص و حددت الجين المسؤول عن المرض ممكن تتجنبي ظهوره مرة ثانية و طالما انك لا يوجد لديك مانع بالنسبة للتكاليف فهذا يرجع لك و ليش لاي احد انصحك استشيري الدكتور محمد راشد هو متفاني جدا و يريد المساعدة انا حاليا احاول الاتصال بمعامل في الخارج تقوم بتحاليل الطفرة من اجل الاسعار والوقت و اذا كان ممكن تحليل قبل زراعة الاجنة عن طريق الخصاب الخارجي لتفادي عمليات الاجهاض و الله الموفق

[farida]

اشكرك على الرد
طبعا فى ظل مرض ابنى وتعبه مش مهم التكاليف طبعا ولكن زوجى بيقولى الان نهتم بالطفل الاول وبعدين نشوف موضوع التحاليل 0000
ممكن لما توصل الى المعمل تقولى اسمه او ايميله لانى من خلال البحث توصلت الى اشهر 5 معامل فى تحاليل الطفرات الجينية فلو ممكن تقولى اسم المعمل ولو حضرتك عايز اسماء المعامل اللى انا توصلت اليه ياريت تقولى

[محمد الموجى]

طبعا لو ممكن ترسلي لي اسماء المعامل و اماكنها و روابطها حتي يمكنني ان اتصل بها انا ايضا احاول البحث و الاتصال ببعض المعامل ممكن ارسل لك الرابط
http://www.ncbi.nlm.nih.gov/sites/Ge...2?db=genetests
هذا الرابط فيه العديد من المعامل علي مستوى العالم
لم اعرف ما هو المرض المصاب به ولدك
يمكنك ان تهتمي بالولد و تقدمي له اقصي رعاية و ايضا تفكري في الانجاب مرة اخري
اسال الله العظيم رب العرش العطيم ان يشفي ابنك و يرزقك الذرية السليمة المعافاه اللهم امين

[محمد الموجى]

http://www2.cbm.uam.es/cedem/UK/UK_index.html
هذا معمل اخر يقوم بعمل الطفرات الوراثية للعديد من الامراض
اسال الله العظيم رب العرش العطيم ان يشفي ابنك و يرزقك الذرية السليمة المعافاه اللهم امين

[farida]

www.genedx.com



www.humangenetik-freiburg.de


http://www.sistemasgenomicos.com

www.estudiosgeneticos.com.ar


http://www.humangenetics.nl/

انا ابنى يعانى من مرض الجلد الفقاعى
اشكرك على الرد

[بنتي حبيبتي]

فعلا الدكتور محمد راشد دكتور انسان و متعاون
و زي ما تفضل الدكتور و زكر انه كان بيعمل في فيصل التخصصي من قبل
وماشاء الله لديه خبره كبيره و معمله مجهز وعلى مستوى عالي

راجعوا الرابط دا
http://www.werathah.com/phpbb/showth...919#post142919