▶️The mother's pregnancy was complicated by maternal syphilis and methamphetamine exposure.
▶️The baby subsequently was found to have a positive serum RPR (1:4) & positive VDRL in CSF (1:1)
▶️GE - hepatomegaly & syphilitic rhinitis (snuffles)-
▶️Diag: Neurosyphillis
▶️Synkinetic jaw movement with blinking - Marcus Gunn jaw-winking syndrome, a congenital cranial innervation disorder wherein a usually ptotic eyelid elevates with mouth opening.
▶️Other names :- trigemino-oculomotor synkinesis and pterygoid-levator synkinesis.
▶️Probably aberrant midbrain connections btw the trigeminal mesencephalic & oculomotor nuclei, ▶️or also anomalous connections btw mandibular division of trigeminal N innervating lateral pterygoid & superior division of oculomotor N innervating levator palpebrae superioris.
▶️evolutionary explanation - disinhibition of phylogenetically ancient circuitry as a release phenomenon, invoking synkinesis as an atavism with respect to fish.
▶️Fish have a strong assn btw jaw opening & eye opening, with deep muscles contracting & superfl muscles relaxing.
▶️Anecdotally, this may inform why some individuals open their mouths while widely opening their eyes to place contact lenses or eye drops...!
The DDs for Marcus Gunn jaw-winking syndrome includes other synkinetic movement disorders, including its inverse disorder, Marin–Amat syndrome, and Duane syndrome
Syphilis has only once been reported as an associated pathology with unilateral jaw-winking ptosis. That case published in 1937 occurred during recovery from a unilateral oculomotor palsy after antisyphilitic treatment.
source: @ActaPaediatrica 10.1016/j.jpeds.2022.09.023
sorry
a slight correction in the source: @JPediatr 10.1016/j.jpeds.2022.09.023
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Folks....!
A 4 month -old girl infant
▶️of consanguineous parents
▶️one of her brothers died at the age of 2 mth due to #SIDS with the other brothers being normal; presents with
▶️Dysmorphic features
▶️growth faltering #MedTwitter#FOAMed#TipsForNewDocs
▶️Delivered by LSCS section at 38 wk gest due to intrauterine growth retardation.
▶️birth weight 1240 g, length was 37.3 cm , head circumference was 30.5 cm
▶️At the age of 12 days, she was admitted for suspected sepsis for a week and discharged in good general condition.
▶️Now at 4 months, severely growth retarded with normal mentality,
▶️weight 2.5 kg, length 47 cm ; head circumference 36 cm (all growth parameters below the 3rd centile).
▶️A 57-year-old man of Javanese ethnicity, Indonesia, with a 12-year history of progressive shortness of breath on exertion
▶️there were inspiratory coarse crackles & occasional wheezing with⏬vesicular sound across all thoracic areas, more in the bilateral base of the lungs.
▶️Cardia was unremarkable, with observable clubbed drumstick appearance of the fingers, without cyanosis or peripheral edema
▶️heavy smoker, around 40 pack-years.
▶️previous h/o completed treatment of pulmonary Tb in 2018.
A 2 m old infant , born at 35 1/7 weeks of gestation via LSCS with BW 2610 g due to preterm PROM, came with sudden-onset bilateral buccal protrusions. NO trauma history previously, nor were any congenital disorders found.
What is this...!? #MedTwitter#TipsForNewDocs#Pediatrics
▶️physical examination revealed bilateral protrusions that were normal in color & texture without bleeding, pus, or ulcer.
▶️With crying, the protrusions became more obvious..!
⚡️MRI showed lesions 2.9 cm in diameter over the left cheek & 2.7 cm over the right cheek with intact b/l buccinator muscle, presenting high signal in T1-weighted imaging view & low signal in fat-suppression view.
⚡️These were suspected to have extended from the buccal fat pad
It is called as "Lichtenberg figures", fernlike or featherlike transient skin injury induced by lightning. The girl was struck through the arm by which she was holding the rope.
Lichtenberg figures are pathognomonic of lightning injuries.
mech of injury can be a “direct strike,” which leads to fatal cardiorespiratory arrest, “ground current” when⚡️hits t ground nearby, “side splash” when⚡️strikes a nearby taller object, & “contact injury,” when t current is conducted by wires or otr metal surfaces, like this case.
*** A typical case of Sodium valproate-induced Fanconi type proximal RTA.
*** The most important diagnostic features of this syndrome include polyuria, polydipsia,hypophosphataemia,hypocalcemia glycosuria & proteinuria
*** clinical fractures representing an underlying osteopaenia may provide an opportunity for early intervention as it ⏫ the suspicion of Fanconi's syndrome.
*** Many case reports suggest there is a subpopulation of individuals who are at risk of developing this condition.
*** These pts share similar characteristics, including being non-ambulatory, developmentally delayed and/or tube fed.
***Withdrawing sodium valproate therapy is the ultimate treatment for valproate-induced Fanconi's syndrome
Some imp insights into #omicron by Dr Jacob John , 🧵@naveenthacker & @vipintukur
🚨Probably #Delta plus 🦠 is t last major mutation that occurred at human level
🚨Delta plus caused syncytia formation in 🫁 that resulted in multinucleated cell which incited more damage of 🫁
3.this mutant is going to remain for ⬆️ period & in turn may be an endemic 🦠 . 4. Newborns may not hv immunity like influenza 🦠 & ‘may’ req regular 💉 .
5.#Omicron is not a variant (probably) but a deviant. In t sense it is antigenic shift , probably derived frm infected 🐀
🚨the mutations in #OmicronVariant mimicked that of 🐀 antigen .
🚨#omicron pathology is not like syncytia but like endocytosis
🚨hence t damage is insignificant and will not affect alveoli and hence no hypoxia, lung damage
🚨⬆️affinity to pharynx , leading to throat pain.