Few yrs back a 5 year boy consulted me for extereme inconsolable crying and screaming usually in night to wake up the whole building since he was infant almost every 3rd -4th night .He complained of severe excruciating pain at a particular spot in his limb which changed in each such screaming episodes.once he was brought as emergency from nearby movie hall in the evening .while talking to parents another child entered my clinic screaming due to abdominal pain and while injecting this child antispasmodic and pain killer the 1st child ceased screaming and got up to have a clear view of process of injecting the other child in pleasant mood.thus it proved the 1st child was suffering of some anxiety neurosis which parents hardly believed.prior to this episode all invest including bone scan was normal.some anxiolytic and counselling of the child completely cured the condition and child is well for last 2 yrs..
Menace of hyperuricemia
Excruciating pain in ankles.hallux and any other site is commonest presentation of hyperuricemia.
It has been seen to present in my experience as
1.a 36yr old lady had uric acid of only 5.6 and her problem of pain in legs.knees and then generalised further aggravated and after 2 to 3 mnths facial edema and pedal edema appeared .she didnt get relief on any rx by various doctors and at last consulted me.i opined in her case uric acid shld be normally below4 insted of 7 and thus febuxostat was instituted .for 10 days her edema and pain didnt respond but patiently it was advised to continue.after 2 wks some relief was felt and thus same rx was continued for more than 1mnth till she became asymptomatic and her uric acid brought below 4 which I feel should be considered upper normal in such patients.
2.in my 8 yr old son uric acid was just 4.9 but he had such excriciating sole pain that he barely walked.he was too treated in same way to reduce its level below 3.5.
3.a young poor lady had severe intolerable giddiness and straight away slept in my clinic even on floor as she couldnt balance to sit even.all sorts of rx for vertigo was tried but none worked.at last uric acid was found 6.9 and its rx continously for 10 days reduced giddiness by 25% and thus same rx for 1 1/2 mnth completely subsided the symptoms and thus she became normal.she has taken several rx for it by at least 7 doctors before she consulted me.
thanks
dr s kumar.
Excruciating pain in ankles.hallux and any other site is commonest presentation of hyperuricemia.
It has been seen to present in my experience as
1.a 36yr old lady had uric acid of only 5.6 and her problem of pain in legs.knees and then generalised further aggravated and after 2 to 3 mnths facial edema and pedal edema appeared .she didnt get relief on any rx by various doctors and at last consulted me.i opined in her case uric acid shld be normally below4 insted of 7 and thus febuxostat was instituted .for 10 days her edema and pain didnt respond but patiently it was advised to continue.after 2 wks some relief was felt and thus same rx was continued for more than 1mnth till she became asymptomatic and her uric acid brought below 4 which I feel should be considered upper normal in such patients.
2.in my 8 yr old son uric acid was just 4.9 but he had such excriciating sole pain that he barely walked.he was too treated in same way to reduce its level below 3.5.
3.a young poor lady had severe intolerable giddiness and straight away slept in my clinic even on floor as she couldnt balance to sit even.all sorts of rx for vertigo was tried but none worked.at last uric acid was found 6.9 and its rx continously for 10 days reduced giddiness by 25% and thus same rx for 1 1/2 mnth completely subsided the symptoms and thus she became normal.she has taken several rx for it by at least 7 doctors before she consulted me.
thanks
dr s kumar.
PFAPA SYNDROME
PFAPA SYNDROME
This published case of PFAPA syndrome is
periodic fever,adenitis,pharyngitis & aphthous oral ulcerations which
occurs on periodically every 1 to 2 months and presents with high fever.since
its autoimmune etiology it responds to steroids within a day or 2 and child
becomes symptomfree very soon without
any prostration and sequelae.it responds poorly to antibiotics as its
noninfective origin.throat swab culture is negative.recently a child with above
findings and repeated fever for several years got admitted in raj hospital.he
recovered without antibiotics only by inn dexona.he was treated repeatedly by
several ent surgeons and very soon tonsillectomy was planned.tonsils were
almost kissing.few throat swab had grew stap aureus and was managed accordingly
by ent spec.but its very remarkable to note that staph aureus never causes tonsillitis.patient parents were
surprised to be cured without antibiotic ,only by dexona.
Ebv,cmv,FMF has to be r/o before coining
Pfafa.
In severe cases interleukin inhibitors can
be given.colchicine almost cures the condition but its self limiting .by
adolescent it resolves spontaneously and has no long term complications .
Its known to occur in adults but do not
resolve spontaneously.
So we shld be aware of this condition for
proper explanations and counsel abt its self limiting course to the parents.staph never causes tonsillitis
or pharry gitis and its very common mistake consider it the etiology in any
case of tonsillitis.
Hids is similar condition of periodic fever
as FMf.any of us is requested to write few lines about these.
So we
should be aware of above condition so that many recurrent above problem can collectively be called
PFAFA syndrome.if very problematic then tonsillectomy could be done.
Hereditary Spherocytosis
Hereditary Spherocytosis
डेढ़ साल के बच्चे को लाया गया, उसे मिट्टी और चुना खाने की शिकायत थी | मैंने बोला बच्चे को जरुर एनीमिया होगी, बच्चे के जांच के वक़्त मैंने बच्चे की माँ की आँखों की भी जांच की, महिला की आँखों में भी पीलापन था, पता चला की माँ को भी एनीमिया था, प्रेगनेंसी के समय भी इसका पता चला था, राँची में विशेषज्ञों द्वारा खून चढ़ा कर डिलीवरी के बाद वेल्लोर भेजा गया, किन्तु खून चढाने के तीन महीने के बाद उपयुक्त जांच करायी जा सकती है अतः माँ को वापस भेज दिया गया, फिर कभी वह वेल्लोर नहीं गयी और तब से जब भी एनीमिया होता था वह खून चढवा लेती थी| यानि एनीमिया किसी अनुवांशिक कारण से था, बच्चे में स्प्लीन बढ़ा हुआ पाया, खून जल्द टूटने से माँ और बेटे दोनों को जोंडिश था, एनीमिया के कारण का पता लगाने के लिए सीबीसी, एचपीएल इत्यादि जांच मैंने लिखी, बच्चे में हीमोग्लोबिन 5.5 ग्राम व एचपीएलसी नार्मल आया, माँ अपनी जांच अभी नहीं करवाना चाह रही थी, आगे मैंने हेरिड़ेट्री स्फेरोसाईटोसिस के लिए जांच लिखा, जो +ve आ गया, aअतः डायग्नोसिस कन्फर्म हो गया, माँ भी जांच करवाने के लिए राजी हो गयी| और माँ में भी यही डायग्नोसिस बना | इलाज के बाद अब दोनों ठीक हैं, इस रोग में लाल कोशिकाएं गोल आकार की हो जाती हैं और 120 दिन नार्मल लाइफ के बजाये जल्दी टूटती हैं, इस कारण गंभीर एनीमिया और जॉन्डिस हो जाता है | खून चढाने के बावजूद एनीमिया बरक़रार रहता है और स्पिलेनेक्टॉमी के बाद लाल कोशिकाओं का टूटना धीमा पड़ जाता है, अतः बिना खून चढ़ाये हीमोग्लोबिन नार्मल रख सकते हैं, बिना पूर्ण जांच किये यदि इमरजेंसी नहीं है तो खून नहीं चढ़ाना चाहिए |
Duchenne muscular dystrophy: Proved wrong after 20 years of clinical diagnosis.
Duchenne muscular dystrophy: Proved wrong after 20 years of clinical diagnosis.
This 18 yr old boy was clinically managed
as Duchenne muscular dystrophy since 5-6 yrs of age by various doctors and
neurologists in Ranchi. The features of increasing motor weakness beginning in
lower limbs and gradually progressing upwards along with.
Highly Raised sr CPK indicated the
diagnosis Dmd clinically. But the history against the Diag was 2 own elder
sisters affected equally and ultimately death at 22 & 24 yrs of age was
missed by many as females are usually carriers and do sent manifest except in
tunrners syndrome and Lyons hypothesis suppression of one x chromosome.
Sisters cpk were high according to the
father.
Due to above reason serious doubt is raised
regarding Diag In this case as its impossible to have 2 girls affected.if it
was then its perhaps 1st such incidence
in the world and needs reporting.
Due to doubt gene study was done for DMD
but it came normal which could be false -ve as not all 80 mutations r studied in
our labs so immunohistochemistry of affected muscle was studied which too came
-be or normal. So almost 95% DMD was ruled out.
If any family with 2 or more severely affected own sisters by DMD is known then please let me know as its matter of research and discussion.
Ectodermal Dysplasia
Ectodermal Dysplasia
अनुवांशिक रोग का कारण यह भी जानिये१० महीने की बच्ची को वायरल कफ की वजह से उसकी सांस रुक गयी थी, उसका इलाज किया गया, ३-४ दिनों में वह पूरी तरह ठीक हो गयी| बच्ची के बाल कम और भूरे थे, दांत भी नहीं निकले थे | अभिभावकों ने बताया की बच्ची को पसीना नहीं निकलता है, उनकी ६ साल की बड़ी बेटी को तो घर से बहार नहीं निकाल सकते क्योंकि गर्म मौसम में उसका तापमान 106 degree Fahrenheit तक चला जाता है, उसे गर्मियों में प्रायः पानी में ही रखना पड़ता है, उसे बिलकुल पसीना नहीं निकलता है, उसे सिर्फ तरल पदार्थ पर रखना पड़ता है, इस शरीर विकृति को Ectodermal Dysplasia कहा जाता है, मैंने उनकी बच्ची के बारे में समझाया और उपाय भी बताये, चूँकि दोनों बच्ची इस अनुवांशिक से ग्रसित हैं, अतः आगे शिशु नहीं पैदा करने की सलाह दी, १२ सप्ताह की गर्भवती से OVS मास भूर्ण की जेनेटिक टेस्ट करवाने पर रिपोर्ट +Ve आने पर गर्भपात करवा लें, अब अनुवांशिक रोग की संभावना बढ़ जाती है, इसीलिए रिश्तेदारी में शादी नहीं करनी चाहिए, इस अनुवांशिक रोग में बाल, दांत, चमड़ी, नाखून से Sweals Sebaceous Glands की absence होती है, कईयों में शारीरिक विकृतियाँ, कान, ऊँगली, ओंठ, नाखून, पूरी तरह नहीं बढ़ पाते हैं, यह 10000 में से 5 बच्चे में पाया जाता है |
उपचार : स्कूल और घर में AC हो, ठंडा पानी एवं तरल पदार्थ पीते रहें, डेंटल इम्प्लांट, इमोलीयेंट लोशन, आर्टिफीसियल आंसूं, नोसल स्प्रे और पेट्रोलियम जेली आदी का उपयोग करना चाहिए |
Wiskott-Aldrich Syndrome
What is Wiskott-Aldrich Syndrome?
कुछ महीने पहले एक डेढ़ साल के बच्चे को इलाज के लिए लाया गया | उसे बार - बार न्यूमोनिया और कान में इन्फेक्शन की शिकायत हो रही थी | उसे एग्जिमा भी था | पेशाब व शौच के रास्ते से खून का स्राव होता था, जाँच में प्लैटलैट्स कम मिला, सूक्ष्म जाँच से पता चला कि उसके प्लैटलैट्स का आकार काफी काम था, इस कारण खून का थक्का जम नहीं पा रहा था, स्प्लीन भी काफी बढ़ा हुआ था | मरीज़ के इन लक्षणों को देख कर विस्कॉट अल्ड्रिच सिंड्रोम नामक रोग के होने का अनुमान हुआ | इस रोग को कन्फर्म करने के लिए उसके जीन की जांच की गयी, रिजल्ट आया | इस जांच से रोग कन्फर्म हो गया |उपचार : इसके उपचार के लिए हर तीन सप्ताह पर इम्युनिटी को बढ़ाने के लिए इंजेक्शन दिया गया | यह इंजेक्शन इन्फेक्शन से बचाने के लिए दिया गया था | जब भी मरीज़ को ब्लीडिंग होती थी तो प्लैटलैट्स ट्रांसफ्यूज़न से इसे रोका जाता था | इसका उपचार सिर्फ़ बोन मेरो ट्रांसप्लांट से ही संभव था | जल्द ही बच्चे को बोन मेरो ट्रांसप्लांट करवा दिया गया, अब बच्चा बिलकुल ठीक है | हालांकि अब स्टेम सेल थेरेपी से भी इसका इलाज़ संभव है, मगर यह प्रक्रिया अभी रिसर्च फेज में है, पर कई मामलों में यह तकनीक सफल हुई है |
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