Microcephaly Causes craniosynostosis. Cerebral anoxia during delivery. Chromosomal abnormalities as Downs syndrome. Fetal infections during pregnancy CMV toxoplasmosis vericella chiken pox German measles Zika virus infection during pregnancy. Extreme malnutrition of mother during pregnancy. Fetal exposure to alcohol drugs some toxic chemicals. If mother has uncontrolled PKU. Treatment if there is craniostynosis surgical intervention to separate fused sutures to give chance to brain devlopement.
MRI Brain showed predominantly white matter involvement and sparing the grey matter...one has think of Phenyl ketonuria, and neurodegenerative disorders like adrenoleukodystrophy, and early onset metachromatic leukodystrophy. Ultimately, grey matter will be involved like with seizural onset.
In this case No treatment is possible Is this patient is 4months or 4yrs? If he is not a pt of Downs . separaration of cranial suture will give scope to brain devlopment.
OK no consanguinity and no Fetal or Neonatal loss. Sr Ammonia levels are mildly elevated, may be around 60, unable read,too small letters. I would like to know Sr Arginine and alanine levels, They go side by side in urea cycle defects. Other Causes for MR with STATEs are - Secondary 1)Organoacidemias,2) Fatty acid defects 3) Hepatic encephalopathies,4) rare metabolic disorders. Clues: Hyperammonemia with increased alanine levels ,resp.alkalosis goes in favour of Urea cycle defects. Hyperammonemia with metabolic acidosis goes in favour of Organic acidemia.
Craniosynostosis is secondary to microcephaly here.The developmental delay is also due to microcephaly.No surgical intervention will help him.Rehabilitate the patient and explain guarded prognosis.
Parental counselling chromosomal/ genetic exam neurophysiotherapy rehabilitate surgical intervention *I think his age is wrongly mentioned he looks 4 years old not of 4 months
It looks like a case of scaphocephaly... It's due to premature closure of saggital suture... Strip craniectomy may be beneficial to the baby...
Any H/o consanguinity, early Neonatal loss, Early hyperammonemia disorders/urea cycle defects
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chil 10 month meal child weight 2.6 kg 7 th month dilevari haveing head size is too small caring only not an activ child what is dx and pognosis is it microscfiDr. Jayesh Patel3 Likes22 Answers
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8yr boy came with Subnormal intelligence and walking difficultly... Pt was near term (born 7 d before EDD), hospital delivered with no significant perinatal event, SGA, antenatal history normal. A/t father no feeding difficulty or jaundice post nataly, first thing they noticed was child not achieving milestones in time like neck holding, sitting, speaking... ie GDD. Then he consulted various practitioners and told to be case of CP and muscle relaxants given. Pt never had convulsion. Pt started walking after 2yrs and speaking monosyllables.. at present he walk unassisted with abnormal gait keeping feet in equinus position and reply to basic question but overall low IQ, he keep smiling in bw interaction. O/e OFC 45cm, heterochromic iris, tone slightly increased, DTR brisk, plantar extensor, contractures felt at both tendoachillis with varus deformity in both knees... CT and X rays done attached. No h/o convulsion so far... Discuss ur opinions and further necessary tests....Dr. Manish Verma4 Likes16 Answers
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ZIKA MAY CAUSE MISCARRIAGES, THIN BRAIN TISSUE IN BABIES CARRIED TO TERM. February 21, 2017. NATURE Communications, 2017. Johns Hopkins researchers say that in EARLY PREGNANCY IN MICE WITH COMPLETE IMMUNE SYSTEMS, ZIKA VIRUS CAN CROSS THE PLACENTA —intended to protect the developing fetus—and appears to LEAD TO A HIGH PERCENTAGE OF MISCARRIAGES and to BABIES BORN WITH THIN BRAIN TISSUE AND INFLAMMATION IN BRAIN CELLS. BY ADMINISTERING ZIKA VIRUS DIRECTLY INTO the REPRODUCTIVE TRACT OF PREGNANT MICE that have an intact immune system, the researchers FOUND that the ZIKA VIRUS appears to CREATE DISORGANIZATION IN THE CELLULAR LAYERS OF the PLACENTA that keep toxins, bacteria and viruses from crossing. This disorganization could be how the virus penetrates the placenta to infect the fetus. The researchers ALSO DISCOVERED A MECHANISM by which Zika may be keeping antiviral proteins in the body from doing their job of protecting cells from the virus. THESE FINDINGS, PUBLISHED FEB. 21 IN NATURE COMMUNICATIONS, put scientists ONE STEP CLOSER TO DEVELOPING targets for VACCINES OR OTHER TREATMENTS FOR ZIKA. CURRENTLY there is NO CURE OR TREATMENT for the virus, which has been LINKED to SERIOUS NEUROLOGICAL PROBLEMS in infants whose mothers were exposed in early pregnancy. For much of 2016, ZIKA was considered A PUBLIC HEALTH EMERGENCY by the World Health Organization. "We need to find a way to stop transmission of Zika through the placenta into the fetus, because that is where the damage is being done," says study co-leader Sabra L. Klein, PhD, an immunologist and microbiologist at the Johns Hopkins Bloomberg School of Public Health. "In the placentas of our mice, we're seeing a defense against Zika being mounted, BUT FALLING SHORT, especially in early pregnancy, a time that CORRESPONDS TO the FIRST TRIMESTER IN HUMANS." Study co-leader Irina Burd, MD, PhD, a maternal/fetal medicine physician at Johns Hopkins Medicine, is hopeful that this is an important step toward halting the transmission of Zika from mother to child. "If we can DETERMINE WHAT IS HAPPENING, we may be ABLE TO FIND WAYS to minimize or even eliminate what can be devastating consequences for children of infected mothers," she says. FOR their RESEARCH, the scientists DEVELOPED A NEW MOUSE MODEL that they say is uniquely capable of helping them to understand the mechanisms behind Zika transmission to the fetus. UNLIKE OTHER MICE used to study the virus, the HOPKINS MICE HAVE COMPLETELY INTACT IMMUNE SYSTEMS MORE SIMILAR TO HUMANS, which enable researchers to see all that is involved in mounting an immune response. They intend to continue to follow up on their initial findings using the same model. To conduct this study, the researchers injected ZIKA virus DIRECTLY INTO the REPRODUCTIVE TRACT of the pregnant mice during what would be the equivalent of the first trimester in a human. SINCE DIFFERENT SPECIES OF ANIMALS MAY CLEAR INFECTIONS IN DIFFERENT WAYS, THEY WANTED TO MAKE SURE THE VIRUS WAS GETTING TO THE MOST RELEVANT TISSUES of the pregnant mice. The researchers USED SEVERAL DIFFERENT STRAINS of the virus, using older strains - ONE from an outbreak in NIGERIA in 1968 and ANOTHER from CAMBODIA in 2010 - and contemporary ones from BRAZIL and PUERTO RICO from the most recent epidemics. NEARLY 94 PERCENT of all PREGNANCIES REMAINED VIABLE when a mock infection was introduced during the first trimester, while the VIABILITY of fetuses AFTER ZIKA INFECTION was REDUCED, REGARDLESS OF which strain was used. VIABILITY RANGED from 56 PERCENT from infection with the BRAZIL STRAIN TO 71 PERCENT following infection with the Nigeria strain. That means anywhere from 29 TO 44 PERCENT of pregnancies were lost following infection.Since MISCARRIAGES can be caused BY a MULTITUDE of FACTORS, THIS ZIKA CONNECTION WAS NOT PREVIOUSLY KNOWN. When the researchers infected the mice in the equivalent of the late second trimester instead, however, many fewer miscarriages occurred, suggesting that there is less vulnerability to Zika later in pregnancy. The researchers ALSO could SEE the ACTIVATION OF ANTIVIRAL DEFENSES in the placentas of pregnant mice infected with virus. To cause an infection, VIRUSES WORK LIKE A LOCK AND KEY, ATTACHING TO SPECIFIC RECEPTORS on cells to take hold and spread. The researchers identified receptors on cells in the placenta that the virus may use to cross into the fetus. THESE ANTI-VIRAL PATHWAYS could be potential TARGETS FOR TREATMENTS that COULD STOP TRANSMISSION, the researchers say. The placenta is the key organ to a healthy pregnancy. It is typically organized into discrete layers of tissue. Under a microscope, the researchers found that the layers of tissue in the placentas of the mice INFECTED WITH ZIKA virus were NO LONGER ORGANIZED WELL and might be how the virus could penetrate the fetus. "This could be why the fetuses in the Zika-infected mice were so VULNERABLE to either miscarriage or brain damage," Burd says. While the VIRUS appeared to CROSS into the PLACENTA fairly EASILY during the FIRST TRIMESTER, the SAME was NOT TRUE IN the SECOND TRIMESTER. As in humans, the direct effects on the pregnancy were much less pronounced if the infection occurred later in pregnancy. Those mouse pups born after an early infection were likely to have THINNER CORTEXES AND have INFLAMMATORY CELLS IN the BRAINÞ, while those born to mothers who had a later infection were much less likely to suffer those effects. IN HUMANS, Burd says, SOME BABIES BORN TO MOTHERS INFECTED LATER ARE STILL SHOWING SOME ILL-EFFECTS, THOUGH it is UNCLEAR why. Since still so LITTLE IS KNOWN ABOUT the LONG-TERM CONSEQUENCES OF the ZIKA virus, in future experiments the researchers say they want to see if the siblings of the babies born during Zika infection will also suffer neurological effects. "We DON'T KNOW IF THE EFFECTS PERSIST IN FUTURE PREGNANCIES," Klein says. "We're just dealing with the here and now. We have NO IDEA WHAT THE LONG-TERM CONSEQUENCES ARE FOR THE MOTHER." _______________________________________ MORE INFORMATION: "Intrauterine Zika virus infection of pregnancy immunocompetent mice models transplacental transmission and adverse perinatal outcomes" NATURE COMMUNICATIONS, 2017. ......................................................................................................... PROVIDED BY: Johns Hopkins University Bloomberg School of Public Health. _______________________________________ IMAGE : TRANSMISSION ELECTRON MICROSCOPE IMAGE OF NEGATIVE-STAINED, FORTALEZA-STRAIN ZIKA VIRUS (red), ISOLATED FROM A MICROCEPHALY CASE IN BRAZIL. The virus is associated with cellular membranes in the center. CREDIT: NIAID ====================+========================Dr. Puranjoy Saha13 Likes10 Answers
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I'm sharing an article on the Manifestations of Zika virus in the eye which I came across recently. This is something which should be useful to all Ophthalmologists. Ophthalmologists find retinal bleeding, abnormal blood vessel development and lesions in infants born to mothers who showed signs of the viral infection during pregnancy Researchers studying babies with a Zika virus-related birth defect say they have found previously unreported eye problems possibly linked to the virus that could result in severe visual impairment. In three Brazilian infants with microcephaly, the researchers observed retinal lesions, hemorrhaging and abnormal blood vessel development not noted before in relation to the virus. Zika virus is now known to cause microcephaly, a birth defect marked by smaller head and brain size. In Brazil, the site of the most serious outbreak, nearly 1.5 million people reportedly have the virus. Some 4,000 infants were recently born with microcephaly, according to reports. As a result, the World Health Organization declared a public health emergency in February, bringing added urgency to the need for more research. A prior study of 29 Brazilian babies with presumed congenital Zika infection showed that a third had eye problems. These included ocular lesions, optic nerve abnormalities and chorioretinal atrophy, a withering of the retina and choroid, the latter of which provides oxygen and nutrients to the retina. For this case study, ophthalmology researchers from Brazil and Stanford University examined the eyes of three infant boys from Northern Brazil born in late 2015 with microcephaly. All had mothers with suspected Zika virus infections during the first trimester of pregnancy. Among the findings, the researchers identified several types of ocular issues not previously observed in relation to Zika virus, some of which could cause severe visual impairment if untreated. These included: • Hemorrhagic retinopathy, or bleeding in the retina, the light-sensitive layer of cells lining the back of the eye; • Abnormal vasculature in the retina, including signs of missing blood vessels in the retina where the cells may have died; and • Torpedo maculopathy, identified by torpedo-shaped lesions in the macula, the central portion of the retina. While retinal lesions have been observed in prior papers on Zika-related ocular findings, the authors note that this type of lesion has not been observed in cases of microcephaly. In addition to these observations, the infants in this study also exhibited other ocular symptoms noted in the previous study. Specifically, all three babies in this case study showed signs of pigmentary maculopathy, lesions that appear as speckles of pigment on the macula. Four eyes had symptoms of chorioretinal atrophy marked by a darkly pigmented ring. The study is small with limited observational data. However, the findings add to a growing body of clinical information about how the Zika virus may affect children’s eye development and vision. The authors noted that it remains unclear whether the viral infection itself causes eye abnormalities or if they are a consequence of Zika-induced microcephaly. “To my knowledge, the eye problems we found have not been associated with Zika virus before,” said Darius Moshfeghi, M.D., senior author and a professor of ophthalmology at the Stanford University School of Medicine. “The next step is to differentiate what findings are related to the Zika virus itself versus microcephaly caused by the virus in order to better understand which infants will need screening.” For now, the authors are calling for all babies with microcephaly in areas hit by Zika to be examined by an ophthalmologist. This is consistent with recent screening recommendations made by the Centers for Disease Control and Prevention. "Until further notice, health professionals in regions endemic for Zika infection are advised to submit all newborns with microcephaly to retinal examinations," the authors wrote. "The procedure can contribute significantly to our understanding of the infection." Potential Eye-Related Manifestations The mild course of disease can include nonpurulent conjunctivitis. In Brazil, investigators have reported macular and optic nerve abnormalities in a study of 29 infants with microencephaly due to a possible Zika congenital infection,3 and in an earlier study of 3 infants.4 The findings included gross macular pigment mottling, macular chorioretinal atrophy, optic nerve hypoplasia, increased cup-to-disc ratio, iris coloboma, and lens subluxation. Another study described additional ocular findings of vascular changes, hemorrhagic retinopathy and torpedo maculopathy.5 It is not known if these ocular findings are a direct result of the Zika virus infection or are a consequence of microcephaly. Role of Ophthalmologists The CDC encourages all healthcare providers to report suspected cases of Zika virus infection to their state health department to help reduce the risk of local transmission. CDC recommends that as part of an examination of all patients with possible congenital Zika virus infection, an eye examination be performed, including a retina evaluation, either in the hospital or within one month after birth. This is from another article on the subject: Retinal Manifestations of ZIKV A mild course of the disease can include anterior uveitis and a non-purulent conjunctivitis.14 Dr. Ventura and colleagues published the first report of three children with presumed ZIKV congenital infection and ocular abnormalities.They identified retinal alterations such as pigment mottling and chorioretinal atrophy in the macular region of the infants. Further studies in two cities in northeast Brazil, Recife and Salvador, reported similar ocular abnormalities affecting the retina as well as optic disc abnormalities in these infants. These findings included gross macular pigment mottling, macular chorioretinal atrophy, optic nerve hypoplasia, increased cup-to-disc ratio, iris coloboma and lens subluxation. In a study conducted in Recife, nine of 20 eyes (45 percent) had optic nerve hypoplasia, pallor and increased cup-to-disk ratio.11 The pathophysiology of these lesions in these infants is thought to be related directly to the virus or an associated toxin leading to an inflammatory reaction. In addition, this same mechanism could be responsible for the severe cerebral findings, such as abnormal development and cerebral calcification. Dr. Ventura and colleagues hypothesized that ZIKV may cause more severe ocular abnormalities when the infection occurs in the first or second trimester of pregnancy, as it does in other congenital infections such as toxoplasmosis, rubella and cytomegalovirus. Furthermore, other unknown factors, such as the amount of virus in the circulation and the immunologic response of mother and/or fetus, may play an important role in the formation of these abnormalities in newborns.Dr. Arun Rajan4 Likes2 Answers
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12 yr old female child, born of a non consanguinous marriage. child hd normal milestones in the first year of life. But after the child started walking mother noticed unsteadiness of gait, which slowly progressed. develop recurrent redness of face on exposure to sunlight since the age of one year..O/E -short stature & cachexia.Microcephaly with mental retardation,large sunken eyes, large prominent ears,severe dental caries,aged appearance,disproportionately large hands & feet Diagnosis? Synonyms? ManagementSheena J8 Likes21 Answers